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Updated: Sep 9, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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古典的ホモシスティヌリアの中国人家族におけるCBS変異とその臨床的影響の解明

Jingfei Zhang1, Xinyu Lin1,2, Xinmei Liu3

  • 1Department of Medical Genetics, West China Hospital, Sichuan University, Chengdu, China.

Molecular genetics & genomic medicine
|August 29, 2025
PubMed
まとめ

この研究は,古典的ホモシスティヌリア (HCU) を有する中国の家族における新型シスタチオニンベータ合成 (CBS) 遺伝子変異を特定した. この発見は,既知のCBS変異のスペクトルを拡大し,中国人の遺伝カウンセリングに役立ちます.

キーワード:
古典的ホモシスティヌリアシスタチオニンベータシンタゼ (CBS)機能分析変異

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