In silico validation revealed the role of SCN5A mutations and their genotype-phenotype correlations in Brugada syndrome.

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作者： Hung Manh,Pham ^[1] ; Duy Phuong,Dang ^[2] ; Thanh Dat,Ta ^[1] ; Thi Phuong,Le ^[3] ; Dinh Phong,Phan ^[1] ; Hoai An,Trinh ^[1] ; Tuan Viet,Tran ^[1] ; Thi Lan Anh,Luong ^[2] ; Ha Minh,Nguyen ^[4] ; The-Hung,Bui ^[1] ; Thinh Huy,Tran ^[2] ; Thanh Van,Ta ^[1] ; Van-Khanh,Tran ^[4]

作者单位： Center for Gene and Protein Research, Hanoi Medical University, Hanoi, Vietnam. ^[1] Vietnam National Heart Institute, Bach Mai Hospital, Hanoi, Vietnam. ^[2] Ho Chi Minh City Heart Institute, Ho Chi Minh, Vietnam. ^[3] Hue Central Hospital, Hue, Vietnam. ^[4] Pham Ngoc Thanh University, Ho Chi Minh, Vietnam. ^[5] Center for Molecular Medicine, Clinical Genetics Unit, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden. ^[6]

关键词 Brugada syndrome SCN5A mutations genotype-phenotype correlation in silico

主题词人类(Humans);Brugada综合征(Brugada Syndrome);突变(Mutation);基因型(Genotype);基因检测(Genetic Testing);遗传关联研究(Genetic Association Studies);心室颤动(Ventricular Fibrillation);猝死, 心脏(Death, Sudden, Cardiac)

DOI 10.1002/mgg3.2263

PMID 37547970

发布时间 2024-07-13

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Molecular genetics & genomic medicine

2023年11卷12期

e2263页

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In silico validation revealed the role of SCN5A mutations and their genotype-phenotype correlations in Brugada syndrome.

Molecular genetics & genomic medicine

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Molecular genetics & genomic medicine

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In silico validation revealed the role of SCN5A mutations and their genotype-phenotype correlations in Brugada syndrome.

Molecular genetics & genomic medicine

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Molecular genetics & genomic medicine

相关期刊

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