MCM4,RYR1,およびG6PDのマルチロカス病原性変異は,マルチシステム症状のある新生児におけるトリオベースの全エクソーム配列決定により特定された:症例報告

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Updated: Feb 13, 2026

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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Kailai Zhu1,2, Ying Yi2, Yijing Shen2

  • 1Department of Anesthesia, Lishui Municipal Central Hospital, Lishui, China.

AME case reports
|February 12, 2026
PubMed
まとめ

マルチロカス病原性変異は,新生児の複雑な状態を引き起こす可能性があります. トリオベースの全エクソームシーケンシング (trio-WES) は,これらのまれな遺伝疾患の診断と管理の指針を決定的に重要です.

キーワード:
G6PD についてMCM4M4 MCM4M4 MCM4M4 MCM4M4 MCM4M4 MCM4 MCM4 MCM4 MCM4 MCM4 MCM4 MCM4 MCM4 MCM4 MCM4 MCM4 MCM4 MCM4 MCM4 MCM4 MCM4 MCM4 MCM4 MCM4 MCM4 MCM4RYR1は,RYR1を意味している.ケースレポート ケースレポートマルチロカス変異の多様性

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Functional Characterization of Endogenously Expressed Human RYR1 Variants07:59

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

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