Analysis of De Novo Mutations in Sporadic Cardiomyopathies Emphasizes Their Clinical Relevance and Points to Novel Candidate Genes

The vast majority of cardiomyopathies have an autosomal dominant inheritance; hence, genetic testing is typically offered to patients with a positive family history. A de novo mutation is a new germline mutation not inherited from either parent. The purpose of our study was to search for de novo mut...

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Detalles Bibliográficos
Autores principales: Franaszczyk, Maria, Truszkowska, Grazyna, Chmielewski, Przemyslaw, Rydzanicz, Malgorzata, Kosinska, Joanna, Rywik, Tomasz, Biernacka, Anna, Spiewak, Mateusz, Kostrzewa, Grazyna, Stepien-Wojno, Malgorzata, Stawinski, Piotr, Bilinska, Maria, Krajewski, Pawel, Zielinski, Tomasz, Lutynska, Anna, Bilinska, Zofia T., Ploski, Rafal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7073782/
https://www.ncbi.nlm.nih.gov/pubmed/32013205
http://dx.doi.org/10.3390/jcm9020370

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