Frameshift mutation in the α2-globin gene causing α+-thalassemia:: Codon 49 (-GC)

被引：1
|
作者：
Eng, Barry
Waye, John S.
机构：
[1] Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, ON
[2] Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON
[3] Department of Pathology and Molecular Medicine, McMaster University Medical Centre, Hamilton
来源：
HEMOGLOBIN | 2008年 / 32卷 / 03期
关键词：
D O I：
10.1080/03630260701798359
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：
We report a new alpha-thalassemia (alpha-thal) point mutation detected in 2 woman with alpha(+)-thal. Sequence analyses identified a frameshift mutation at codon 49 (-GC) in exon 2 of the alpha 2-globin gene.
引用
收藏
页码：315 / 317
页数：3
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