スポラディックな自閉症エクソームは,デノボ変異の高度に相互接続されたタンパク質ネットワークを明らかにします

Brian J O'Roak1, Laura Vives, Santhosh Girirajan

  • 1Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA.

Nature
|April 13, 2012
PubMed
まとめ

De novo変異は,しばしば父性であり,特に父親の年齢が増加するにつれて,自閉症スペクトラム障害 (ASD) のリスクと関連しています. 破壊的な突然変異は,重要な遺伝子ネットワークを標的にし,ASDのための新しい診断と治療の道を提供しています.

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