Identification of SCN5a p.C335R Variant in a Large Family with Dilated Cardiomyopathy and Conduction Disease

Introduction: Familial dilated cardiomyopathy (DCM) is clinically variable and has been associated with mutations in more than 50 genes. Rapid improvements in DNA sequencing have led to the identification of diverse rare variants with unknown significance (VUS), which underlines the importance of fu...

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Detalles Bibliográficos
Autores principales: Sedaghat-Hamedani, Farbod, Rebs, Sabine, El-Battrawy, Ibrahim, Chasan, Safak, Krause, Tobias, Haas, Jan, Zhong, Rujia, Liao, Zhenxing, Xu, Qiang, Zhou, Xiaobo, Akin, Ibrahim, Zitron, Edgar, Frey, Norbert, Streckfuss-Bömeke, Katrin, Kayvanpour, Elham
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8657717/
https://www.ncbi.nlm.nih.gov/pubmed/34884792
http://dx.doi.org/10.3390/ijms222312990

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