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Updated: Sep 9, 2025

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

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

Published on: June 15, 2011

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4つの新しい遺伝子の変異は,全エクソーム配列を解析したチベット人集団の卵巣孔と関連している

Hongwei Li1, Yongjun He2, Yong Wu1

  • 1Department of Cardiology, Hospital of Chengdu Office of People's Government of Xizang Autonomous Region (Hospital.C.X.), Chengdu, China.

Frontiers in genetics
|September 3, 2025
PubMed
まとめ

この研究では,チベットの特許卵巣孔 (PFO) の患者でGABRP,GJB4,RTTN,USH2A遺伝子の新規変異を特定しました. これらの発見は,高地の集団におけるPFOの遺伝的基礎を明らかにします.

キーワード:
チベット遺伝学パテンツ・フォアメン・オヴァール病原遺伝子変異全エクソームシーケンシング

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