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Updated: Feb 5, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

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Published on: June 15, 2011

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在混乱区域的突变可以通过创建dieleucine动机引起疾病

Katrina Meyer1, Marieluise Kirchner1, Bora Uyar2

  • 1Proteome Dynamics, Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Robert-Rössle-Str. 10, 13125 Berlin, Germany.

Cell
|September 11, 2018
PubMed
概括

内在无序区域 (IDR) 的突变可以通过增加克拉结合引起疾病,从而导致蛋白质错位. 这项研究确定了获得的氨酸基因作为驱动这些"氨酸病变"的关键机制.

关键词:
葡萄糖缺乏症候群双氨酸的动机内细胞贩运发生本质性疾病质谱学点位变异蛋白与蛋白的相互作用蛋白质组学

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