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Updated: Apr 21, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

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自閉症スペクトル障害に対するデノボコード変異の貢献

Ivan Iossifov1, Brian J O'Roak2, Stephan J Sanders3

  • 1Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA.

Nature
|November 4, 2014
PubMed
まとめ

完全なエクソーム配列解析により,誤認症例の13%と遺伝子障害 (LGD) 症例の43%において,自閉症スペクトル障害の診断に寄与する新規変異が特定されました. これらの遺伝的要因は,特に女性において,診断の有意な割合を占めています.

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Autism Spectrum Disorder01:19

Autism Spectrum Disorder

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While point mutations are changes in a single nucleotide in...
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