ABNORMAL RNA PROCESSING DUE TO THE EXON MUTATION OF BETA-E-GLOBIN GENE

被引：277

作者：

ORKIN, SH

KAZAZIAN, HH

ANTONARAKIS, SE

OSTRER, H

GOFF, SC

SEXTON, JP

机构：

[1] SIDNEY FARBER CANC INST,BOSTON,MA 02115

[2] HARVARD UNIV,SCH MED,DEPT PEDIAT,BOSTON,MA 02115

[3] JOHNS HOPKINS UNIV HOSP,DIV PEDIATR GENET,DEPT PEDIAT,JOHNS HOPKINS SCH MED,BALTIMORE,MD 21205

来源：

NATURE | 1982年 / 300卷 / 5894期

关键词：

D O I：

10.1038/300768a0

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

引用

页码：768 / 769

页数：2

共 17 条

[1] 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

[2] EXPRESSION OF A BETA-GLOBIN GENE IS ENHANCED BY REMOTE SV40 DNA-SEQUENCES [J].

BANERJI, J ;

RUSCONI, S ;

SCHAFFNER, W .

CELL, 1981, 27 (02) :299-308

[3] MOLECULAR ANALYSIS OF THE BETA-THALASSEMIA PHENOTYPE ASSOCIATED WITH INHERITANCE OF HEMOGLOBIN-E (ALPHA-2-BETA-2-26GLU-]LYS) [J].

BENZ, EJ ;

BERMAN, BW ;

TONKONOW, BL ;

COUPAL, E ;

COATES, T ;

BOXER, LA ;

ALTMAN, A ;

ADAMS, JG .

JOURNAL OF CLINICAL INVESTIGATION, 1981, 68 (01) :118-126

[4]

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

[5] 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

[6]

Favaloro J, 1980, Methods Enzymol, V65, P718

[7] ABNORMAL RNA SPLICING CAUSES ONE FORM OF ALPHA-THALASSEMIA [J].

FELBER, BK ;

ORKIN, SH ;

HAMER, DH .

CELL, 1982, 29 (03) :895-902

[8] ABNORMALLY SPLICED MESSENGER-RNA IN ERYTHROID-CELLS FROM PATIENTS WITH BETA+-THALASSEMIA AND MONKEY CELLS EXPRESSING A CLONED BETA+-THALASSEMIC GENE [J].

FUKUMAKI, Y ;

GHOSH, PK ;

BENZ, EJ ;

REDDY, VB ;

LEBOWITZ, P ;

FORGET, BG ;

WEISSMAN, SM .

CELL, 1982, 28 (03) :585-593

[9]

Maxam A M, 1980, Methods Enzymol, V65, P499

[10] A CATALOG OF SPLICE JUNCTION SEQUENCES [J].

MOUNT, SM .

NUCLEIC ACIDS RESEARCH, 1982, 10 (02) :459-472

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