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Another locus, a new method.

作者信息

Singleton Andrew B, Gibbs J Raphael

机构信息

NIH-Molecuar Genetics Section, Bldg 35, Rm 1A1000, 35 Lincoln Drive, Bethesda, MD 20892, USA.

出版信息

Brain. 2010 Dec;133(Pt 12):3492-3. doi: 10.1093/brain/awq331.

Abstract
摘要

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本文引用的文献

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TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing.
Brain. 2010 Dec;133(Pt 12):3510-8. doi: 10.1093/brain/awq323. Epub 2010 Nov 23.
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Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.
Nature. 2010 Sep 9;467(7312):207-10. doi: 10.1038/nature09327. Epub 2010 Aug 22.
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Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.
Nat Genet. 2010 Sep;42(9):790-3. doi: 10.1038/ng.646. Epub 2010 Aug 15.
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Exome sequencing of a multigenerational human pedigree.
PLoS One. 2009 Dec 14;4(12):e8232. doi: 10.1371/journal.pone.0008232.
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Exome sequencing identifies the cause of a mendelian disorder.
Nat Genet. 2010 Jan;42(1):30-5. doi: 10.1038/ng.499. Epub 2009 Nov 13.
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Genetic diagnosis by whole exome capture and massively parallel DNA sequencing.
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