BETA-THALASSEMIA IN AMERICAN BLACKS - NOVEL MUTATIONS IN THE TATA BOX AND AN ACCEPTOR SPLICE SITE

被引：187

作者：

ANTONARAKIS, SE

IRKIN, SH

CHENG, TC

SCOTT, AF

SEXTON, JP

TRUSKO, SP

CHARACHE, S

KAZAZIAN, HH

机构：

[1] JOHNS HOPKINS UNIV, SCH MED, DEPT MED, BALTIMORE, MD 21205 USA

[2] JOHNS HOPKINS UNIV, SCH MED, DEPT LAB MED, BALTIMORE, MD 21205 USA

[3] HARVARD UNIV, CHILDRENS HOSP,SCH MED,DEPT PEDIAT, DIV HEMATOL ONCOL, BOSTON, MA 02115 USA

[4] HARVARD UNIV, SCH MED, DANA FARBER CANC INST, BOSTON, MA 02115 USA

来源：

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES | 1984年 / 81卷 / 04期

关键词：

D O I：

10.1073/pnas.81.4.1154

中图分类号：

Q [生物科学];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

引用

页码：1154 / 1158

页数：5

共 42 条

[1] NONRANDOM ASSOCIATION OF POLYMORPHIC RESTRICTION SITES IN THE BETA-GLOBIN GENE-CLUSTER [J].

ANTONARAKIS, SE ;

BOEHM, CD ;

GIARDINA, PJV ;

KAZAZIAN, HH .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1982, 79 (01) :137-141

[2] EVIDENCE FOR MULTIPLE ORIGINS OF THE BETA-E-GLOBIN GENE IN SOUTHEAST-ASIA [J].

ANTONARAKIS, SE ;

ORKIN, SH ;

KAZAZIAN, HH ;

GOFF, SC ;

BOEHM, CD ;

WABER, PG ;

SEXTON, JP ;

OSTRER, H ;

FAIRBANKS, VF ;

CHAKRAVARTI, A .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1982, 79 (21) :6608-6611

[3] ORIGIN OF THE BETA-S-GLOBIN GENE IN BLACKS - THE CONTRIBUTION OF RECURRENT MUTATION OR GENE CONVERSION OR BOTH [J].

ANTONARAKIS, SE ;

BOEHM, CD ;

SERJEANT, GR ;

THEISEN, CE ;

DOVER, GJ ;

KAZAZIAN, HH .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1984, 81 (03) :853-856

[4]

BRAVERMAN AS, 1973, J LAB CLIN MED, V81, P857

[5]

BREATHNACH R, 1981, ANNU REV BIOCHEM, V50, P349, DOI 10.1146/annurev.bi.50.070181.002025

[6] BETA+ THALASSEMIA - ABERRANT SPLICING RESULTS FROM A SINGLE POINT MUTATION IN AN INTRON [J].

BUSSLINGER, M ;

MOSCHONAS, N ;

FLAVELL, RA .

CELL, 1981, 27 (02) :289-298

[7] ETIOLOGY OF GROWTH-HORMONE DEFICIENCY IN LITTLE, AMES, AND SNELL DWARF MICE [J].

CHENG, TC ;

BEAMER, WG ;

PHILLIPS, JA ;

BARTKE, A ;

MALLONEE, RL ;

DOWLING, C .

ENDOCRINOLOGY, 1983, 113 (05) :1669-1678

[8] 3 REGIONS UPSTREAM FROM THE CAP SITE ARE REQUIRED FOR EFFICIENT AND ACCURATE TRANSCRIPTION OF THE RABBIT BETA-GLOBIN GENE IN MOUSE 3T6 CELLS [J].

DIERKS, P ;

VANOOYEN, A ;

COCHRAN, MD ;

DOBKIN, C ;

REISER, J ;

WEISSMANN, C .

CELL, 1983, 32 (03) :695-706

[9] ABNORMAL SPLICE IN A MUTANT HUMAN BETA-GLOBIN GENE NOT AT THE SITE OF A MUTATION [J].

DOBKIN, C ;

PERGOLIZZI, RG ;

BAHRE, P ;

BANK, A .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1983, 80 (05) :1184-1188

[10] THE STRUCTURE AND EVOLUTION OF THE HUMAN BETA-GLOBIN GENE FAMILY [J].

EFSTRATIADIS, A ;

POSAKONY, JW ;

MANIATIS, T ;

LAWN, RM ;

OCONNELL, C ;

SPRITZ, RA ;

DERIEL, JK ;

FORGET, BG ;

WEISSMAN, SM ;

SLIGHTOM, JL ;

BLECHL, AE ;

SMITHIES, O ;

BARALLE, FE ;

SHOULDERS, CC ;

PROUDFOOT, NJ .

CELL, 1980, 21 (03) :653-668

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