Hematologically important mutations: Ankyrin variants in hereditary spherocytosis
Hematologically important mutations: Ankyrin variants in hereditary spherocytosis
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DOI：
10.1016/j.bcmd.2005.08.008
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发表时间：
2005-11-01
影响因子：
2.3
通讯作者：
Gallagher, PG
中科院分区：
文献类型：
--
作者：
Gallagher, PG
遗传性球形细胞增多症(HS)综合征的主要缺陷是一种或多种红细胞膜蛋白的质或量改变。红细胞膜蛋白ankyrin的突变是典型的显性HS最常见的原因。由于锚蛋白基因启动子或从头突变，锚蛋白突变也可引起非显性球形红细胞增多症。在大多数情况下，HS相关的锚定蛋白突变是私人的。本文对HS相关的锚定蛋白基因突变进行了综述。(C)2005 Elsevier Inc.保留所有权利。
The primary defect in the hereditary spherocytosis (HS) syndromes is a qualitative or quantitative alteration in one or more erythrocyte membrane proteins. Mutation of the erythrocyte membrane protein ankyrin are the most common cause of typical, dominant HS. Ankyrin mutations also cause nondominant spherocytosis due to ankyrin gene promoter or de novo mutations. In most cases, HS-related ankyrin mutations are private. A summary of reported HS-associated ankyrin gene mutations is provided in this report. (c) 2005 Elsevier Inc. All rights reserved.