Digenic inheritance and Mendelian disease

被引：39
|
作者：
Lupski, James R. [1 ,2 ,3 ]
机构：
[1] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
[2] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA
[3] Texas Childrens Hosp, Houston, TX 77030 USA
来源：
NATURE GENETICS | 2012年 / 44卷 / 12期
关键词：
MUTATION;
D O I：
10.1038/ng.2479
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Powerful genomic technologies, such as exome sequencing, are providing new insights into the genetics underlying Mendelian traits. A new study identifies a role for digenic inheritance and an epigenetic modifier in facioscapulohumeral muscular dystrophy type 2.
引用
收藏
页码：1291 / +
页数：2
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