Whole genome sequencing identifies causal variants in CMT

被引：0

作者：

Stephan Züchner

机构：

[1] Hussman Institute for Human Genomics,

[2] University of Miami Miller School of Medicine,undefined

来源：

Nature Reviews Neurology | 2010年 / 6卷

关键词：

D O I：

暂无

中图分类号：

学科分类号：

摘要：

For the first time, medical sequencing has been successfully performed at the genome level to identify the causative gene in an individual with autosomal recessive Charcot–Marie–Tooth disease. The results of sequencing a proband with this condition highlight some of the opportunities and challenges of this seemingly ultimate approach to human genetics research and diagnostics.

引用

页码：424 / 425

页数：1

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