A novel splice acceptor site mutation of the α2-globin gene causing α-thalassemia

被引：8
|
作者：
Noguera, NI
González, FA
Dávoli, RA
Milani, AC
Villegas, A
机构：
[1] Univ Madrid, Hosp Clin San Carlos, Serv Hematol & Hemoterapia, Madrid 28040, Spain
[2] Univ Nacl Rosario, Fac Ciencias Bioquim & Farmaceut, Area Hematol, Dept Bioquim Clin, RA-2000 Rosario, Santa Fe, Argentina
来源：
HEMOGLOBIN | 2001年 / 25卷 / 03期
关键词：
D O I：
10.1081/HEM-100105224
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
A novel nondeletional alpha -thalassemia mutation that affects RNA processing, changing the alpha2 IVS-II-142 splice acceptor consensus sequence from AG to AA, has been detected in an Argentinian patient with Hb H disease and her daughter.
引用
收藏
页码：311 / 315
页数：5
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