AN INITIATION CODON MUTATION (AUG-]GUG) OF THE HUMAN ALPHA-1-GLOBIN GENE - STRUCTURAL CHARACTERIZATION AND EVIDENCE FOR A MILD THALASSEMIC PHENOTYPE

被引:69
作者
MOI, P
CASH, FE
LIEBHABER, SA
CAO, A
PIRASTU, M
机构
[1] USL21,OSPED REG MICROCITEMIE,VIA JENNER 5N,I-09100 CAGLIARI,ITALY
[2] UNIV CAGLIARI,IST CLIN & BIOL ETA EVOLUT,I-09100 CAGLIARI,ITALY
[3] UNIV PENN,HOWARD HUGHES MED INST,PHILADELPHIA,PA 19104
[4] UNIV PENN,DEPT MED,PHILADELPHIA,PA 19104
[5] UNIV PENN,DEPT HUMAN GENET,PHILADELPHIA,PA 19104
[6] CNR,IST RIC SUUE TALASSEMIE & ANEMIE MED,CAGLIARI,ITALY
关键词
D O I
10.1172/JCI113220
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:1416 / 1421
页数:6
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