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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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.
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页码：30 / 35
页数：5
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