Whole-exome sequencing for finding de novo mutations in sporadic mental retardation

被引：33
作者：
Robinson, Peter N. [1 ,2 ,3 ]
机构：
[1] Charite Univ Med Berlin, Inst Med & Human Genet, D-13353 Berlin, Germany
[2] Charite Univ Med Berlin, Berlin Brandenburg Ctr Regenerat Therapies, D-13353 Berlin, Germany
[3] Max Planck Inst Mol Genet, D-14195 Berlin, Germany
来源：
GENOME BIOLOGY | 2010年 / 11卷 / 12期
关键词：
Mental Retardation; Sanger Sequencing; Nonsense Mutation; Exome Sequence; Candidate Mutation;
D O I：
10.1186/gb-2010-11-12-144
中图分类号：
Q81 [生物工程学（生物技术）]; Q93 [微生物学];
学科分类号：
071005 ; 0836 ; 090102 ; 100705 ;
摘要：
Recent work has used a family-based approach and whole-exome sequencing to identify de novo mutations in sporadic cases of mental retardation.
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页数：3
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