期刊
EUROPEAN JOURNAL OF HUMAN GENETICS
卷 15, 期 10, 页码 1094-1097出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/sj.ejhg.5201878
关键词
ATRX; intragenic duplication; mutation; array-CGH
ATR-X syndrome is a rare syndromic X-linked mental retardation disorder. We report that some of the patients suspected of ATR-X carry large intragenic duplications in the ATRX gene, leading to an absence of ATRX mRNA and of the protein. These findings underscore the need for including quantitative analyses to mutation analysis of the ATRX gene.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据