由α2-珠蛋白基因中的无义突变引起的α+-地中海贫血特征：密码子54（CAG>TAG）。
Alpha+-thalassemia trait caused by a nonsense mutation in the alpha2-globin gene: codon 54 (CAG>TAG).
作者信息
Eng Barry, Walker Lynda, Waye John S
机构信息
Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, ON, Canada.
出版信息
Hemoglobin. 2009;33(1):72-4. doi: 10.1080/03630260802625980.
PMID:19205977
Abstract
We report a new alpha-thalassemia (alpha-thal) point mutation detected in a woman with alpha(+)-thal trait. Sequence analysis identified a nonsense mutation in exon 2 of the alpha2-globin gene, at amino acid codon 54 (CAG>TAG).
摘要
我们报告了在一名具有α（+）-地中海贫血特征的女性中检测到的一种新的α-地中海贫血（α-地贫）点突变。序列分析确定在α2-珠蛋白基因外显子2的氨基酸密码子54处存在一个无义突变（CAG>TAG）。
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