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Updated: Jun 10, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

全エクソームシーケンシングは,重度の脳不発症における WDR62のリセシブ変異を特定します

Kaya Bilgüvar1, Ali Kemal Oztürk, Angeliki Louvi

  • 1Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA.

Nature
|August 24, 2010
PubMed
まとめ

WDリピートドメイン62 (WDR62) のリセシブ突然変異は,小頭症やパキギリアを含む重度の脳異常を引き起こします. 全エクソーム配列解析により,WDR62が人間の脳皮質の発達における重要な遺伝子として特定されました.

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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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