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`https://www.ncbi.nlm.nih.gov/sviewer/viewer.fcgi?noredirect=1&db=nuccore&val=U01317.1
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`<pre class="genbank">LOCUS HUMHBB 73308 bp DNA linear PRI 16-OCT-2008
`DEFINITION Human beta globin region on chromosome 11.
`ACCESSION U01317 J00093 J00094 J00096 J00158-J00175 J00177 J00178 J00179
` K01239 K01890 K02544 M18047 M19067 M24868 M24886
`VERSION U01317.1
`KEYWORDS Alu repeat; HPFH; KpnI repetitive sequence; RNA polymerase III;
` allelic variation; alternate cap site; beta-1 pseudogene;
` beta-globin; delta-globin; epsilon-globin; gamma-globin; gene
` duplication; globin; polymorphism; promoter mutation; pseudogene;
` repetitive sequence; thalassemia.
`SOURCE Homo sapiens (human)
` ORGANISM <a href="/Taxonomy/Browser/wwwtax.cgi?id=9606">Homo sapiens</a>
` Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
` Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
` Catarrhini; Hominidae; Homo.
`REFERENCE 1 (bases 62409 to 62631; 63482 to 63610)
` AUTHORS Marotta,C.A., Forget,B.G., Weissman,S.M., Verma,I.M.,
` McCaffrey,R.P. and Baltimore,D.
` TITLE Nucleotide sequences of human globin messenger RNA
` JOURNAL Proc. Natl. Acad. Sci. U.S.A. 71 (6), 2300-2304 (1974)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/4135409">4135409</a>
`REFERENCE 2 (bases 63602 to 63646)
` AUTHORS Forget,B.G., Marotta,C.A., Weissman,S.M. and Cohen-Solal,M.
` TITLE Nucleotide sequences of the 3'-terminal untranslated region of
` messenger RNA for human beta globin chain
` JOURNAL Proc. Natl. Acad. Sci. U.S.A. 72 (9), 3614-3618 (1975)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/1059150">1059150</a>
`REFERENCE 3 (bases 63593 to 63626)
` AUTHORS Proudfoot,N.J. and Brownlee,G.G.
` TITLE Nucleotide sequences of globin messenger RNA
` JOURNAL Br. Med. Bull. 32 (3), 251-256 (1976)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/788834">788834</a>
`REFERENCE 4 (bases 63673 to 63743)
` AUTHORS Proudfoot,N.J. and Longley,J.I.
` TITLE The 3' terminal sequences of human alpha and beta globin messenger
` RNAs: comparison with rabbit globin messenger RNA
` JOURNAL Cell 9 (4 PT 2), 733-746 (1976)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/1035137">1035137</a>
`REFERENCE 5 (sites)
` AUTHORS Proudfoot,N.J. and Brownlee,G.G.
` TITLE 3' non-coding region sequences in eukaryotic messenger RNA
` JOURNAL Nature 263 (5574), 211-214 (1976)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/822353">822353</a>
`REFERENCE 6 (bases 63596 to 63743)
` AUTHORS Proudfoot,N.J.
` TITLE Complete 3' noncoding region sequences of rabbit and human
` beta-globin messenger RNAs
` JOURNAL Cell 10 (4), 559-570 (1977)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/67897">67897</a>
`REFERENCE 7 (bases 62137 to 62193)
` AUTHORS Baralle,F.
` TITLE Complete nucleotide sequence of the 5' noncoding region of human
` alpha-and beta-globin mRNA
` JOURNAL Cell 12 (4), 1085-1095 (1977)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/597858">597858</a>
`REFERENCE 8 (sites)
` AUTHORS Marotta,C.A., Forget,B.G., Cohne-Solal,M., Wilson,J.T. and
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` Weissman,S.M.
` TITLE Human beta-globin messenger RNA. I. Nucleotide sequences derived
` from complementary RNA
` JOURNAL J. Biol. Chem. 252 (14), 5019-5031 (1977)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/873928">873928</a>
`REFERENCE 9 (bases 62187 to 63610)
` AUTHORS Cohen-Solal,M., Forget,B.G., Prensky,W., Marotta,C.A. and
` Weissman,S.M.
` TITLE Human beta-globin messenger RNA. II. nucleotide sequences derived
` from 125I-labeled globin messenger RNA
` JOURNAL J. Biol. Chem. 252 (14), 5032-5039 (1977)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/318159">318159</a>
`REFERENCE 10 (bases 54790 to 54881; 62409 to 62631; 63482 to 63715)
` AUTHORS Marotta,C.A., Wilson,J.T., Forget,B.G. and Weissman,S.M.
` TITLE Human beta-globin messenger RNA. III. Nucleotide sequences derived
` from complementary DNA
` JOURNAL J. Biol. Chem. 252 (14), 5040-5053 (1977)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/68958">68958</a>
`REFERENCE 11 (bases 62137 to 62189)
` AUTHORS Chang,J.C., Temple,G.F., Poon,R., Neumann,K.H. and Kan,Y.W.
` TITLE The nucleotide sequences of the untranslated 5' regions of human
` alpha- and beta-globin mRNAs
` JOURNAL Proc. Natl. Acad. Sci. U.S.A. 74 (11), 5145-5149 (1977)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/270752">270752</a>
`REFERENCE 12 (bases 56103 to 56184)
` AUTHORS Lawn,R.M., Fritsch,E.F., Parker,R.C., Blake,G. and Maniatis,T.
` TITLE The isolation and characterization of linked delta- and beta-globin
` genes from a cloned library of human DNA
` JOURNAL Cell 15 (4), 1157-1174 (1978)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/728996">728996</a>
`REFERENCE 13 (bases 35854 to 35946; 63482 to 63531)
` AUTHORS Little,P., Curtis,P., Coutelle,C., Van den Berg,J., Dalgleish,R.,
` Malcolm,S., Courtney,M., Westaway,D. and Williamson,R.
` TITLE Isolation and partial sequence of recombinant plasmids containing
` human alpha-, beta- and gamma-globin cDNA fragments
` JOURNAL Nature 273 (5664), 640-643 (1978)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/318161">318161</a>
`REFERENCE 14 (bases 62187 to 63742)
` AUTHORS Wilson,J.T., Wilson,L.B., deRiel,J.K., Villa-komaroff,L.,
` Efstratiadis,A., Forget,B.G. and Weissman,S.M.
` TITLE Insertion of synthetic copies of human globin genes into bacterial
` plasmids
` JOURNAL Nucleic Acids Res. 5 (2), 563-581 (1978)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/345245">345245</a>
`REFERENCE 15 (bases 34478 to 34563; 39414 to 39499)
` AUTHORS Chang,J.C., Poon,R., Neumann,K.H. and Kan,Y.W.
` TITLE The nucleotide sequence of the 5' untranslated region of human
` gamma-globin mRNA
` JOURNAL Nucleic Acids Res. 5 (10), 3515-3522 (1978)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/318162">318162</a>
`REFERENCE 16 (bases 40839 to 40985)
` AUTHORS Poon,R., Kan,Y.W. and Boyer,H.W.
` TITLE Sequence of the 3'-noncoding and adjacent coding regions of human
` gamma-globin mRNA
` JOURNAL Nucleic Acids Res. 5 (12), 4625-4630 (1978)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/318163">318163</a>
`REFERENCE 17 (bases 35826 to 35907; 40742 to 40823)
` AUTHORS Smithies,O., Blechl,A.E., Denniston-Thompson,K., Newell,N.,
` Richards,J.E., Slightom,J.L., Tucker,P.W. and Blattner,F.R.
` TITLE Cloning human fetal gamma globin and mouse alpha-type globin DNA:
` characterization and partial sequencing
` JOURNAL Science 202 (4374), 1284-1289 (1978)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/725604">725604</a>
`REFERENCE 18 (bases 34478 to 34536; 62137 to 62192; 63608 to 63742)
` AUTHORS Kan,Y.W., Chang,C.S. and Poon,R.
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` TITLE Nucleotide sequences of the untranslated 5' and 3' regions of human
` alpha-, beta-, and gamma-globin mRNAS
` JOURNAL (in) Stamatoyannopoulos,G. and Newhouse,A.W. (Eds.);
` CELLULAR AND MOLECULAR REGULATION OF HEMOGLOBIN SWITCHING: 0-0;
` Grune and Stratton, New York (1979) In press
`REFERENCE 19 (sites)
` AUTHORS Chang,J.C. and Kan,Y.W.
` TITLE beta 0 thalassemia, a nonsense mutation in man
` JOURNAL Proc. Natl. Acad. Sci. U.S.A. 76 (6), 2886-2889 (1979)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/88735">88735</a>
`REFERENCE 20 (bases 19846 to 19965)
` AUTHORS Proudfoot,N.J. and Baralle,F.E.
` TITLE Molecular cloning of human epsilon-globin gene
` JOURNAL Proc. Natl. Acad. Sci. U.S.A. 76 (11), 5435-5439 (1979)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/160554">160554</a>
`REFERENCE 21 (sites)
` AUTHORS Chang,J.C., Kan,Y.W., Trecartin,R.F. and Temple,G.F.
` TITLE Nonsense mutation as a cause of beta 0 thalassemia
` JOURNAL Ann. N. Y. Acad. Sci. 344, 113-119 (1980)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6985475">6985475</a>
`REFERENCE 22 (sites)
` AUTHORS Fritsch,E.F., Lawn,R.M. and Maniatis,T.
` TITLE Molecular cloning and characterization of the human beta-like
` globin gene cluster
` JOURNAL Cell 19 (4), 959-972 (1980)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6155216">6155216</a>
`REFERENCE 23 (bases 19462 to 21741)
` AUTHORS Baralle,F.E., Shoulders,C.C. and Proudfoot,N.J.
` TITLE The primary structure of the human epsilon-globin gene
` JOURNAL Cell 21 (3), 621-626 (1980)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6254663">6254663</a>
`REFERENCE 24 (bases 34422 to 36069; 39358 to 40986)
` AUTHORS Slightom,J.L., Blechl,A.E. and Smithies,O.
` TITLE Human fetal G gamma- and A gamma-globin genes: complete nucleotide
` sequences suggest that DNA can be exchanged between these
` duplicated genes
` JOURNAL Cell 21 (3), 627-638 (1980)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/7438203">7438203</a>
`REFERENCE 25 (bases 54618 to 56602)
` AUTHORS Spritz,R.A., DeRiel,J.K., Forget,B.G. and Weissman,S.M.
` TITLE Complete nucleotide sequence of the human delta-globin gene
` JOURNAL Cell 21 (3), 639-646 (1980)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/7438204">7438204</a>
`REFERENCE 26 (bases 62034 to 64083)
` AUTHORS Lawn,R.M., Efstratiadis,A., O'Connell,C. and Maniatis,T.
` TITLE The nucleotide sequence of the human beta-globin gene
` JOURNAL Cell 21 (3), 647-651 (1980)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6254664">6254664</a>
`REFERENCE 27 (sites)
` AUTHORS Efstratiadis,A., Posakony,J.W., Maniatis,T., Lawn,R.M.,
` O'Connell,C., Spritz,R.A., DeRiel,J.K., Forget,B.G., Weissman,S.M.,
` Slightom,J.L., Blechl,A.E., Smithies,O., Baralle,F.E.,
` Shoulders,C.C. and Proudfoot,N.J.
` TITLE The structure and evolution of the human beta-globin gene family
` JOURNAL Cell 21 (3), 653-668 (1980)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6985477">6985477</a>
`REFERENCE 28 (bases 19864 to 19983)
` AUTHORS Baralle,F.E., Shoulders,C.C., Goodbourn,S., Jeffreys,A. and
` Proudfoot,N.J.
` TITLE The 5' flanking region of human epsilon-globin gene
` JOURNAL Nucleic Acids Res. 8 (19), 4393-4404 (1980)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6253916">6253916</a>
`REFERENCE 29 (bases 32353 to 43728)
` AUTHORS Shen,S.H., Slightom,J.L. and Smithies,O.
` TITLE A history of the human fetal globin gene duplication
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` JOURNAL Cell 26 (2 PT 2), 191-203 (1981)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/7332928">7332928</a>
`REFERENCE 30 (sites)
` AUTHORS Busslinger,M., Moschonas,N. and Flavell,R.A.
` TITLE Beta + thalassemia: aberrant splicing results from a single point
` mutation in an intron
` JOURNAL Cell 27 (2 PT 1), 289-298 (1981)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6895866">6895866</a>
`REFERENCE 31 (bases 32353 to 33218; 51978 to 52472)
` AUTHORS Duncan,C.H., Jagadeeswaran,P., Wang,R.R. and Weissman,S.M.
` TITLE Structural analysis of templates and RNA polymerase III transcripts
` of Alu family sequences interspersed among the human beta-like
` globin genes
` JOURNAL Gene 13 (2), 185-196 (1981)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6165649">6165649</a>
`REFERENCE 32 (sites)
` AUTHORS Orkin,S.H. and Goff,S.C.
` TITLE Nonsense and frameshift mutations in beta 0-thalassemia detected in
` cloned beta-globin genes
` JOURNAL J. Biol. Chem. 256 (19), 9782-9784 (1981)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6985481">6985481</a>
`REFERENCE 33 (bases 62454 to 62613)
` AUTHORS Orkin,S.H., Goff,S.C. and Nathan,D.G.
` TITLE Heterogeneity of DNA deletion in gamma delta beta-thalassemia
` JOURNAL J. Clin. Invest. 67 (3), 878-884 (1981)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6162860">6162860</a>
`REFERENCE 34 (sites)
` AUTHORS Trecartin,R.F., Liebhaber,S.A., Chang,J.C., Lee,K.Y., Kan,Y.W.,
` Furbetta,M., Angius,A. and Cao,A.
` TITLE beta zero thalassemia in Sardinia is caused by a nonsense mutation
` JOURNAL J. Clin. Invest. 68 (4), 1012-1017 (1981)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6457059">6457059</a>
`REFERENCE 35 (sites)
` AUTHORS Westaway,D. and Williamson,R.
` TITLE An intron nucleotide sequence variant in a cloned beta
` +-thalassaemia globin gene
` JOURNAL Nucleic Acids Res. 9 (8), 1777-1788 (1981)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6264391">6264391</a>
`REFERENCE 36 (sites)
` AUTHORS Moschonas,N., de Boer,E., Grosveld,F.G., Dahl,H.H., Wright,S.,
` Shewmaker,C.K. and Flavell,R.A.
` TITLE Structure and expression of a cloned beta o thalassaemic globin
` gene
` JOURNAL Nucleic Acids Res. 9 (17), 4391-4401 (1981)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6272205">6272205</a>
`REFERENCE 37 (bases 60489 to 60948)
` AUTHORS Spritz,R.A.
` TITLE Duplication/deletion polymorphism 5' - to the human beta globin
` gene
` JOURNAL Nucleic Acids Res. 9 (19), 5037-5047 (1981)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/7312624">7312624</a>
`REFERENCE 38 (bases 59345 to 59593)
` AUTHORS Miesfeld,R., Krystal,M. and Arnheim,N.
` TITLE A member of a new repeated sequence family which is conserved
` throughout eucaryotic evolution is found between the human delta
` and beta globin genes
` JOURNAL Nucleic Acids Res. 9 (22), 5931-5947 (1981)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6273813">6273813</a>
`REFERENCE 39 (bases 16595 to 17840)
` AUTHORS Di Segni,G., Carrara,G., Tocchini-Valentini,G.R., Shoulders,C.C.
` and Baralle,F.E.
` TITLE Selective in vitro transcription of one of the two Alu family
` repeats present in the 5' flanking region of the human
` epsilon-globin gene
` JOURNAL Nucleic Acids Res. 9 (24), 6709-6722 (1981)
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` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/7335492">7335492</a>
`REFERENCE 40 (sites)
` AUTHORS Adams,J.G. 3rd, Steinberg,M.H., Newman,M.V., Morrison,W.T.,
` Benz,E.J. Jr. and Iyer,R.
` TITLE beta-Thalassemia present in cis to a new beta-chain structural
` variant, Hb Vicksburg [beta 75 (E19)Leu leads to 0]
` JOURNAL Proc. Natl. Acad. Sci. U.S.A. 78 (1), 469-473 (1981)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6165992">6165992</a>
`REFERENCE 41 (bases 61921 to 63824)
` AUTHORS Spritz,R.A., Jagadeeswaran,P., Choudary,P.V., Biro,P.A.,
` Elder,J.T., deRiel,J.K., Manley,J.L., Gefter,M.L., Forget,B.G. and
` Weissman,S.M.
` TITLE Base substitution in an intervening sequence of a beta+-thalassemic
` human globin gene
` JOURNAL Proc. Natl. Acad. Sci. U.S.A. 78 (4), 2455-2459 (1981)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6264477">6264477</a>
`REFERENCE 42 (sites)
` AUTHORS Baird,M., Driscoll,C., Schreiner,H., Sciarratta,G.V., Sansone,G.,
` Niazi,G., Ramirez,F. and Bank,A.
` TITLE A nucleotide change at a splice junction in the human beta-globin
` gene is associated with beta 0-thalassemia
` JOURNAL Proc. Natl. Acad. Sci. U.S.A. 78 (7), 4218-4221 (1981)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6270663">6270663</a>
`REFERENCE 43 (sites)
` AUTHORS Grosveld,F., Busslinger,M., Grosveld,G., Groffen,J., DeKleine,A.
` and Flavell,R.A.
` TITLE The structure and expression of the haemoglobin genes
` JOURNAL Adv. Exp. Med. Biol. 158, 65-80 (1982)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6297279">6297279</a>
`REFERENCE 44 (sites)
` AUTHORS Treisman,R., Proudfoot,N.J., Shander,M. and Maniatis,T.
` TITLE A single-base change at a splice site in a beta 0-thalassemic gene
` causes abnormal RNA splicing
` JOURNAL Cell 29 (3), 903-911 (1982)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/7151176">7151176</a>
`REFERENCE 45 (bases 63823 to 64083)
` AUTHORS Poncz,M., Ballantine,M., Solowiejczyk,D., Barak,I., Schwartz,E. and
` Surrey,S.
` TITLE beta-Thalassemia in a Kurdish Jew. Single base changes in the
` T-A-T-A box
` JOURNAL J. Biol. Chem. 257 (11), 5994-5996 (1982)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/7076659">7076659</a>
`REFERENCE 46 (bases 61873 to 62198; 62375 to 62448)
` AUTHORS Gorski,J., Fiori,M. and Mach,B.
` TITLE A new nonsense mutation as the molecular basis for beta
` thalassaemia
` JOURNAL J. Mol. Biol. 154 (3), 537-540 (1982)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6896219">6896219</a>
`REFERENCE 47 (bases 50716 to 51215)
` AUTHORS Jagadeeswaran,P., Tuan,D., Forget,B.G. and Weissman,S.M.
` TITLE A gene deletion ending at the midpoint of a repetitive DNA sequence
` in one form of hereditary persistence of fetal haemoglobin
` JOURNAL Nature 296 (5856), 469-470 (1982)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6174873">6174873</a>
`REFERENCE 48 (sites)
` AUTHORS Orkin,S.H., Kazazian,H.H. Jr., Antonarakis,S.E., Goff,S.C.,
` Boehm,C.D., Sexton,J.P., Waber,P.G. and Giardina,P.J.
` TITLE Linkage of beta-thalassaemia mutations and beta-globin gene
` polymorphisms with DNA polymorphisms in human beta-globin gene
` cluster
` JOURNAL Nature 296 (5858), 627-631 (1982)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6280057">6280057</a>
`REFERENCE 49 (sites)
` AUTHORS Ottolenghi,S. and Giglioni,B.
` TITLE The deletion in a type of delta 0-beta 0-thalassaemia begins in an
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` inverted AluI repeat
` JOURNAL Nature 300 (5894), 770-771 (1982)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6184621">6184621</a>
`REFERENCE 50 (bases 62651 to 62715)
` AUTHORS Spence,S.E., Pergolizzi,R.G., Donovan-Peluso,M., Kosche,K.A.,
` Dobkin,C.S. and Bank,A.
` TITLE Five nucleotide changes in the large intervening sequence of a beta
` globin gene in a beta+ thalassemia patient
` JOURNAL Nucleic Acids Res. 10 (4), 1283-1294 (1982)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6280138">6280138</a>
`REFERENCE 51 (bases 60676 to 62137)
` AUTHORS Moschonas,N., de Boer,E. and Flavell,R.A.
` TITLE The DNA sequence of the 5' flanking region of the human beta-globin
` gene: evolutionary conservation and polymorphic differences
` JOURNAL Nucleic Acids Res. 10 (6), 2109-2120 (1982)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6985483">6985483</a>
`REFERENCE 52 (sites)
` AUTHORS Alan,M., Grindlay,G.J., Stefani,L. and Paul,J.
` TITLE Epsilon globin gene transcripts originating upstream of the mRNA
` cap site in K562 cells and normal human embryos
` JOURNAL Nucleic Acids Res. 10 (17), 5133-5147 (1982)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6292831">6292831</a>
`REFERENCE 53 (sites)
` AUTHORS Kinniburgh,A.J., Maquat,L.E., Schedl,T., Rachmilewitz,E. and
` Ross,J.
` TITLE mRNA-deficient beta o-thalassemia results from a single nucleotide
` deletion
` JOURNAL Nucleic Acids Res. 10 (18), 5421-5427 (1982)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6292840">6292840</a>
`REFERENCE 54 (bases 54438 to 54740)
` AUTHORS Kimura,A., Matsunaga,E., Ohta,Y., Fujiyoshi,T., Matsuo,T.,
` Nakamura,T., Imamura,T., Yanase,T. and Takagi,Y.
` TITLE Structure of cloned delta-globin genes from a normal subject and a
` patient with delta-thalassemia; sequence polymorphisms found in the
` delta-globin gene region of Japanese individuals
` JOURNAL Nucleic Acids Res. 10 (19), 5725-5732 (1982)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6292847">6292847</a>
`REFERENCE 55 (bases 10410 to 13774)
` AUTHORS Shen,S.H. and Smithies,O.
` TITLE Human globin psi B2 is not a globin-related sequence
` JOURNAL Nucleic Acids Res. 10 (23), 7809-7818 (1982)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6897566">6897566</a>
`REFERENCE 56 (sites)
` AUTHORS Spritz,R.A. and Orkin,S.H.
` TITLE Duplication followed by deletion accounts for the structure of an
` Indian deletion beta (0)-thalassemia gene
` JOURNAL Nucleic Acids Res. 10 (24), 8025-8029 (1982)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/7162987">7162987</a>
`REFERENCE 57 (bases 62373 to 62421)
` AUTHORS Flavell,R.A., Bud,H., Bullman,H., Busslinger,M., de Boer,E., de
` Kleine,A., Golden,L., Groffen,J., Grosveld,F.G., Mellor,A.L.,
` Moschonas,N. and Weiss,E.
` TITLE The structure and expression of mammalian gene clusters
` JOURNAL Prog. Clin. Biol. Res. 103, 37-55 (1982)
` MEDLINE <a href="https://www.ncbi.nlm.nih.gov/pubmed/83144268">83144268</a>
`REFERENCE 58 (sites)
` AUTHORS Ley,T.J. and Nienhuis,A.W.
` TITLE A weak upstream promoter gives rise to long human beta-globin RNA
` molecules
` JOURNAL Biochem. Biophys. Res. Commun. 112 (3), 1041-1048 (1983)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6303333">6303333</a>
`REFERENCE 59 (sites)
` AUTHORS Carlson,D.P. and Ross,J.
` TITLE Human beta-globin promoter and coding sequences transcribed by RNA
` polymerase III
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` JOURNAL Cell 34 (3), 857-864 (1983)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6194893">6194893</a>
`REFERENCE 60 (sites)
` AUTHORS Allan,M., Lanyon,W.G. and Paul,J.
` TITLE Multiple origins of transcription in the 4.5 Kb upstream of the
` epsilon-globin gene
` JOURNAL Cell 35 (1), 187-197 (1983)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6194897">6194897</a>
`REFERENCE 61 (sites)
` AUTHORS Vanin,E.F., Henthorn,P.S., Kioussis,D., Grosveld,F. and Smithies,O.
` TITLE Unexpected relationships between four large deletions in the human
` beta-globin gene cluster
` JOURNAL Cell 35 (3 PT 2), 701-709 (1983)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6652684">6652684</a>
`REFERENCE 62 (bases 50744 to 67204)
` AUTHORS Poncz,M., Schwartz,E., Ballantine,M. and Surrey,S.
` TITLE Nucleotide sequence analysis of the delta beta-globin gene region
` in humans
` JOURNAL J. Biol. Chem. 258 (19), 11599-11609 (1983)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6311816">6311816</a>
`REFERENCE 63 (bases 62050 to 62050; 62279 to 62279; 62283 to 62283)
` AUTHORS Treisman,R., Orkin,S.H. and Maniatis,T.
` TITLE Specific transcription and RNA splicing defects in five cloned
` beta-thalassaemia genes
` JOURNAL Nature 302 (5909), 591-596 (1983)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6188062">6188062</a>
`REFERENCE 64 (bases 62190 to 62244)
` AUTHORS Chang,J.C., Alberti,A. and Kan,Y.W.
` TITLE A beta-thalassemia lesion abolishes the same Mst II site as the
` sickle mutation
` JOURNAL Nucleic Acids Res. 11 (22), 7789-7794 (1983)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6316272">6316272</a>
`REFERENCE 65 (bases 50716 to 53976)
` AUTHORS Maeda,N., Bliska,J.B. and Smithies,O.
` TITLE Recombination and balanced chromosome polymorphism suggested by DNA
` sequences 5' to the human delta-globin gene
` JOURNAL Proc. Natl. Acad. Sci. U.S.A. 80 (16), 5012-5016 (1983)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6308666">6308666</a>
`REFERENCE 66 (sites)
` AUTHORS Kimura,A., Ohta,Y., Fukumaki,Y. and Takagi,Y.
` TITLE A fusion gene in man: DNA sequence analysis of the abnormal globin
` gene of hemoglobin Miyada
` JOURNAL Biochem. Biophys. Res. Commun. 119 (3), 968-974 (1984)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6324786">6324786</a>
`REFERENCE 67 (sites)
` AUTHORS Kazazian,H.H. Jr., Orkin,S.H., Antonarakis,S.E., Sexton,J.P.,
` Boehm,C.D., Goff,S.C. and Waber,P.G.
` TITLE Molecular characterization of seven beta-thalassemia mutations in
` Asian Indians
` JOURNAL EMBO J. 3 (3), 593-596 (1984)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6714226">6714226</a>
`REFERENCE 68 (sites)
` AUTHORS Guida,S., Giglioni,B., Comi,P., Ottolenghi,S., Camaschella,C. and
` Saglio,G.
` TITLE The beta-globin gene in Sardinian delta beta 0-thalassemia carries
` a C----T nonsense mutation at codon 39
` JOURNAL EMBO J. 3 (4), 785-787 (1984)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6327288">6327288</a>
`REFERENCE 69 (sites)
` AUTHORS Giglioni,B., Casini,C., Mantovani,R., Merli,S., Comi,P.,
` Ottolenghi,S., Saglio,G., Camaschella,C. and Mazza,U.
` TITLE A molecular study of a family with Greek hereditary persistence of
` fetal hemoglobin and beta-thalassemia
` JOURNAL EMBO J. 3 (11), 2641-2645 (1984)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6210198">6210198</a>
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`REFERENCE 70 (bases 61557 to 61623)
` AUTHORS Semenza,G.L., Malladi,P., Surrey,S., Delgrosso,K., Poncz,M. and
` Schwartz,E.
` TITLE Detection of a novel DNA polymorphism in the beta-globin gene
` cluster
` JOURNAL J. Biol. Chem. 259 (10), 6045-6048 (1984)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6327661">6327661</a>
`REFERENCE 71 (sites)
` AUTHORS Orkin,S.H., Antonarakis,S.E. and Kazazian,H.H. Jr.
` TITLE Base substitution at position -88 in a beta-thalassemic globin
` gene. Further evidence for the role of distal promoter element
` ACACCC
` JOURNAL J. Biol. Chem. 259 (14), 8679-8681 (1984)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6086605">6086605</a>
`REFERENCE 72 (bases 45336 to 47463)
` AUTHORS Chang,L.Y. and Slightom,J.L.
` TITLE Isolation and nucleotide sequence analysis of the beta-type globin
` pseudogene from human, gorilla and chimpanzee
` JOURNAL J. Mol. Biol. 180 (4), 767-784 (1984)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6098690">6098690</a>
`REFERENCE 73 (sites)
` AUTHORS Grindlay,G.J., Lanyon,W.G., Allan,M. and Paul,J.
` TITLE Alternative sites of transcription initiation upstream of the
` canonical cap site in human gamma-globin and beta-globin genes
` JOURNAL Nucleic Acids Res. 12 (4), 1811-1820 (1984)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6701091">6701091</a>
`REFERENCE 74 (sites)
` AUTHORS Stoeckert,C.J. Jr., Collins,F.S. and Weissman,S.M.
` TITLE Human fetal globin DNA sequences suggest novel conversion event
` JOURNAL Nucleic Acids Res. 12 (11), 4469-4479 (1984)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6330670">6330670</a>
`REFERENCE 75 (sites)
` AUTHORS Mager,D.L. and Henthorn,P.S.
` TITLE Identification of a retrovirus-like repetitive element in human DNA
` JOURNAL Proc. Natl. Acad. Sci. U.S.A. 81 (23), 7510-7514 (1984)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6095301">6095301</a>
`REFERENCE 76 (bases 19120 to 61776)
` AUTHORS Collins,F.S. and Weissman,S.M.
` TITLE The molecular genetics of human hemoglobin
` JOURNAL Prog. Nucleic Acid Res. Mol. Biol. 31, 315-462 (1984)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/6397774">6397774</a>
`REFERENCE 77 (bases 34276 to 34276; 34282 to 34282; 34321 to 34321)
` AUTHORS Gilman,J.G. and Huisman,T.H.
` TITLE DNA sequence variation associated with elevated fetal G gamma
` globin production
` JOURNAL Blood 66 (4), 783-787 (1985)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/2412616">2412616</a>
`REFERENCE 78 (sites)
` AUTHORS Ruskin,B., Greene,J.M. and Green,M.R.
` TITLE Cryptic branch point activation allows accurate in vitro splicing
` of human beta-globin intron mutants
` JOURNAL Cell 41 (3), 833-844 (1985)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/3879973">3879973</a>
`REFERENCE 79 (sites)
` AUTHORS Lang,K.M. and Spritz,R.A.
` TITLE Cloning specific complete polyadenylylated 3'-terminal cDNA
` segments
` JOURNAL Gene 33 (2), 191-196 (1985)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/2581851">2581851</a>
`REFERENCE 80 (bases 1 to 16593)
` AUTHORS Li,Q., Powers,P.A. and Smithies,O.
` TITLE Nucleotide sequence of 16-kilobase pairs of DNA 5' to the human
` epsilon-globin gene
` JOURNAL J. Biol. Chem. 260 (28), 14901-14910 (1985)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/4066658">4066658</a>
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`REFERENCE 81 (sites)
` AUTHORS Gelinas,R., Endlich,B., Pfeiffer,C., Yagi,M. and
` Stamatoyannopoulos,G.
` TITLE G to A substitution in the distal CCAAT box of the A gamma-globin
` gene in Greek hereditary persistence of fetal haemoglobin
` JOURNAL Nature 313 (6000), 323-325 (1985)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/2578619">2578619</a>
`REFERENCE 82 (sites)
` AUTHORS Collins,F.S., Metherall,J.E., Yamakawa,M., Pan,J., Weissman,S.M.
` and Forget,B.G.
` TITLE A point mutation in the A gamma-globin gene promoter in Greek
` hereditary persistence of fetal haemoglobin
` JOURNAL Nature 313 (6000), 325-326 (1985)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/2578620">2578620</a>
`REFERENCE 83 (bases 67071 to 73308)
` AUTHORS Hattori,M., Hidaka,S. and Sakaki,Y.
` TITLE Sequence analysis of a KpnI family member near the 3' end of human
` beta-globin gene
` JOURNAL Nucleic Acids Res. 13 (21), 7813-7827 (1985)
` PUBMED <a href="https://www.ncbi.nlm.nih.gov/pubmed/2999705">2999705</a>
`REFERENCE 84 (sites)
` AUTHORS van Santen,V.L. and Spritz,R.A.
` TITLE mRNA precursor