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

页码：315 / 317

页数：3

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