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Updated: Sep 9, 2025

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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SCN2Aの非コードde novo変異は,自閉症スペクトル障害と関連している

Yuan Zhang1, Mian Umair Ahsan1, Kai Wang1,2

  • 1Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

iScience
|September 2, 2025
PubMed
まとめ

この研究は,SCN2A遺伝子のコード化および非コード化の両方が自閉症スペクトル障害 (ASD) のリスクと関連していることを明らかにしています. この発見はASDの遺伝子研究における 非コーディング領域の重要性を強調しています

キーワード:
発達遺伝学人間 の 遺伝子定量遺伝学

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