ALPHA-THALASSEMIA CAUSED BY AN UNSTABLE ALPHA-GLOBIN MUTANT

被引:59
作者
LIEBHABER, SA
KAN, YW
机构
[1] UNIV CALIF SAN FRANCISCO,HOWARD HUGHES MED INST LAB,SAN FRANCISCO,CA 94143
[2] UNIV CALIF SAN FRANCISCO,DEPT MED,DIV GENET & MOLEC HEMATOL,SAN FRANCISCO,CA 94143
关键词
D O I
10.1172/JCI110790
中图分类号
R-3 [医学研究方法]; R3 [基础医学];
学科分类号
1001 ;
摘要
引用
收藏
页码:461 / 466
页数:6
相关论文
共 37 条
[1]   HEMOGLOBIN INDIANAPOLIS (BETA-112[G14] ARGININE) - UNSTABLE BETA-CHAIN VARIANT PRODUCING THE PHENOTYPE OF SEVERE BETA-THALASSEMIA [J].
ADAMS, JG ;
BOXER, LA ;
BAEHNER, RL ;
FORGET, BG ;
TSISTRAKIS, GA ;
STEINBERG, MH .
JOURNAL OF CLINICAL INVESTIGATION, 1979, 63 (05) :931-938
[2]  
ALTER BP, 1979, BLOOD, V54, P1158
[3]  
BASSET P, 1978, BLOOD, V51, P971
[4]   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
[5]   BETA-O THALASSEMIA, A NONSENSE MUTATION IN MAN [J].
CHANG, JC ;
WAIKAN, Y .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1979, 76 (06) :2886-2889
[6]  
DAYHOFF MO, 1969, ATLAS PROTEIN SEQUEN, V5, P56
[7]  
DIESSEROTH A, 1977, CELL, V12, P205
[8]   ORGANIZATION OF THE ALPHA-GLOBIN GENES IN THE CHINESE ALPHA-THALASSEMIA SYNDROMES [J].
EMBURY, SH ;
LEBO, RV ;
DOZY, AM ;
KAN, YW .
JOURNAL OF CLINICAL INVESTIGATION, 1979, 63 (06) :1307-1310
[9]  
GOOSSENS M, 1982, NATURE, V296, P537
[10]   GLOBIN CHAIN SYNTHESIS IN ALPHA THALASSEMIA SYNDROMES [J].
KAN, YW ;
SCHWARTZ, E ;
NATHAN, DG .
JOURNAL OF CLINICAL INVESTIGATION, 1968, 47 (11) :2515-&