New mutations and intellectual function

被引:29
作者
Lupski, James R. [1 ,2 ]
机构
[1] Texas Childrens Hosp, Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
[2] Texas Childrens Hosp, Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA
关键词
REARRANGEMENTS; MOSAICISM; MECHANISM;
D O I
10.1038/ng1210-1036
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Exome-based sequencing is a powerful approach for studying rare genetic diseases. A new study now applies this technology to demonstrate an important role for de novo mutations in sporadic mental retardation.
引用
收藏
页码:1036 / 1038
页数:4
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