北约克血红蛋白[β117（G19）组氨酸→天冬氨酸]：一种新的β链血红蛋白变异体。
Hb North York [beta 117(G19)His-->Asp]: a new beta chain hemoglobin variant.
作者信息
Waye John S, Walker Lynda, Nakamura Lisa M, Eng Barry, McFarlane Andrew
机构信息
Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, ON, Canada.
出版信息
Hemoglobin. 2009;33(1):51-3. doi: 10.1080/03630260802625659.
PMID:19205973
Abstract
Routine hemoglobin (Hb) analysis identified a new beta chain Hb variant in an Iranian woman, who otherwise had normal hematological indices. Sequence analysis demonstrated that the Hb variant was due to a missense mutation at amino acid codon 117 (CAC>GAC, His-->Asp) of the beta-globin gene.
摘要
常规血红蛋白（Hb）分析在一名伊朗女性中发现了一种新的β链Hb变异体，该女性的其他血液学指标均正常。序列分析表明，这种Hb变异体是由β-珠蛋白基因第117位氨基酸密码子（CAC>GAC，组氨酸→天冬氨酸）的错义突变引起的。
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