Exome sequencing identifies the cause of a mendelian disorder

被引：0

作者：

Sarah B Ng

Kati J Buckingham

Choli Lee

Abigail W Bigham

Holly K Tabor

Karin M Dent

Chad D Huff

Paul T Shannon

Ethylin Wang Jabs

Deborah A Nickerson

Jay Shendure

Michael J Bamshad

机构：

[1] University of Washington,Department of Genome Sciences

[2] University of Washington,Department of Pediatrics

[3] Treuman Katz Center for Pediatric Bioethics,Department of Pediatrics

[4] Seattle Children's Hospital,Department of Human Genetics

[5] University of Utah,Department of Genetics and Genomic Sciences

[6] University of Utah,Department of Pediatrics

[7] Institute of Systems Biology,undefined

[8] Mount Sinai School of Medicine,undefined

[9] Johns Hopkins University,undefined

[10] Seattle Children's Hospital,undefined

来源：

Nature Genetics | 2010年 / 42卷

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学科分类号：

摘要：

Michael Bamshad, Jay Shendure and colleagues report the first application of exome resequencing to identify the cause of a mendelian disorder. They sequenced the exomes of four individuals with Miller syndrome in three independent families and identify mutations in DHODH, a key enzyme in the pyrimidine de novo biosynthesis pathway, as causal for the disorder.

引用

页码：30 / 35

页数：5

共 50 条

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