Homozygous Pro1066Arg <i>MYBPC3</i> Pathogenic Variant in a 26Mb Region of Homozygosity Associated with Severe Hypertrophic Cardiomyopathy in a Patient of an Apparent Non-Consanguineous Family.

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第一作者： Raquel,Rodríguez-López

第一单位： Laboratory of Molecular Genetics, Clinical Analysis Service, Consortium General University Hospital, 46014 Valencia, Spain.

作者： Raquel,Rodríguez-López ^[1] ; Javier,García-Planells ^[2] ; Marina,Martínez-Matilla ^[2] ; Cristian,Pérez-García ^[2] ; Amor,García Banacloy ^[3] ; Carola,Guzmán Luján ^[1] ; Otilia,Zomeño Alcalá ^[1] ; Joaquina,Belchi Navarro ^[4] ; Juan,Martínez-León ^[5] ; Rafael,Salguero-Bodes ^[6]

作者单位： Laboratory of Molecular Genetics, Clinical Analysis Service, Consortium General University Hospital, 46014 Valencia, Spain. ^[1] Igenomix, 46980 Valencia, Spain. ^[2] Department of Surgery, Faculty of Medicine, University of Valencia, 46010 Valencia, Spain. ^[3] Cardiology Service, Consortium General University Hospital, 46014 Valencia, Spain. ^[4] Cardiovascular Surgery Service Hospital La Fe, 46026 Valencia, Spain. ^[5] Cardiology Department and Research Institute Hospital Universitario, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain. ^[6] Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Carlos III Health Institute, 28029 Madrid, Spain. ^[7] Medicine Department, Faculty of Medicine, Complutense University of Madrid, 28040 Madrid, Spain. ^[8]

关键词 HPO terms MYBPC3 MYH7 cardiac phenotype region of homozygosity

DOI 10.3390/life12071035

PMID 35888124

发布时间 2022-07-31

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Life (Basel, Switzerland)

2022年12卷7期

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Homozygous Pro1066Arg <i>MYBPC3</i> Pathogenic Variant in a 26Mb Region of Homozygosity Associated with Severe Hypertrophic Cardiomyopathy in a Patient of an Apparent Non-Consanguineous Family.

Life (Basel, Switzerland)

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Homozygous Pro1066Arg <i>MYBPC3</i> Pathogenic Variant in a 26Mb Region of Homozygosity Associated with Severe Hypertrophic Cardiomyopathy in a Patient of an Apparent Non-Consanguineous Family.

Life (Basel, Switzerland)

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Life (Basel, Switzerland)

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