+-Thalassemia Trait Caused by a Nonsense Mutation in the 2-Globin Gene: Codon 54 (CAGTAG)

被引：1
|
作者：
Eng, Barry
Walker, Lynda
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 | 2009年 / 33卷 / 01期
关键词：
-Thalassemia (-thal); Point mutation; Nonsense mutation; ALPHA-THALASSEMIA; ALPHA-2-GLOBIN GENE; MICROCYTOSIS; PREVALENCE;
D O I：
10.1080/03630260802625980
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 -thalassemia (-thal) point mutation detected in a woman with +-thal trait. Sequence analysis identified a nonsense mutation in exon 2 of the 2-globin gene, at amino acid codon 54 (CAGTAG).
引用
收藏
页码：72 / 74
页数：3
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