A family study of the Chinese Rhnull individual of the regulator type: a novel single missense mutation identified in RHAG gene
A family study of the Chinese Rhnull individual of the regulator type: a novel single missense mutation identified in RHAG gene
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DOI：
10.1111/j.1537-2995.2011.03218.x
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发表时间：
2011-12
期刊：
影响因子：
2.9
通讯作者：
L. Tian;N. Song;Z. Yao;Mei Huang;Li Hou
中科院分区：
文献类型：
--
作者：
L. Tian;N. Song;Z. Yao;Mei Huang;Li Hou
背景技术背景：Rhnull是一种罕见的常染色体隐性遗传病，调节型Rhnull可能是由编码RhAG糖蛋白并调节Rh抗原表达的RHAG基因突变引起的。本研究描述了一个中国Rhnull家族的分子遗传学分析，并确定在RHAG基因的新突变。
BACKGROUND: Rhnull is a rare autosomal recessive disorder, and Rhnull of the regulator type may result from mutation of the RHAG gene, which encodes RhAG glycoprotein and modulates Rh antigen expression. This study described the molecular genetic analysis of a Chinese Rhnull family and identified a novel mutation in the RHAG gene.