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Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs

BACKGROUND: Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) are serious inherited heart diseases with various causative mutations identified. The full spectrum of causative mutations remains to be discovered, especially in understudied populations. METHODS: Here, we established th...

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Detalles Bibliográficos
Autores principales: Al‐Shafai, Kholoud N., Al‐Hashemi, Mohammed, Manickam, Chidambaram, Musa, Rania, Selvaraj, Senthil, Syed, Najeeb, Vempalli, Fazulur, Ali, Muneera, Yacoub, Magdi, Estivill, Xavier
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8372065/
https://www.ncbi.nlm.nih.gov/pubmed/34137518
http://dx.doi.org/10.1002/mgg3.1709