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Updated: Jun 26, 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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在SCN2A中非编码的de novo突变与自闭症谱系障碍有关

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.

medRxiv : the preprint server for health sciences
|May 20, 2024
PubMed
概括

这项研究发现,SCN2A基因中的编码和非编码新突变 (DNM) 都与自闭症谱系障碍 (ASD) 有关. 确定了额外的候选基因,用于未来对ASD风险因素的研究.

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