A novel causative functional mutation in GATA6 gene is responsible for familial dilated cardiomyopathy as supported by in silico functional analysis

Dilated cardiomyopathy (DCM), one of the most common types of cardiomyopathies has a heterogeneous nature and can be seen in Mendelian forms. Next Generation Sequencing is a powerful tool for identifying novel variants in monogenic disorders. We used whole-exome sequencing (WES) and Sanger sequencin...

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Detalles Bibliográficos
Autores principales: Khazamipour, Afrouz, Gholampour-Faroji, Nazanin, Zeraati, Tina, Vakilian, Farveh, Haddad-Mashadrizeh, Aliakbar, Ghayour Mobarhan, Majid, Pasdar, Alireza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9374661/
https://www.ncbi.nlm.nih.gov/pubmed/35962153
http://dx.doi.org/10.1038/s41598-022-13993-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9374661/
https://www.ncbi.nlm.nih.gov/pubmed/35962153
http://dx.doi.org/10.1038/s41598-022-13993-6

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