Mutation of a common amino acid in NKX2.5 results in dilated cardiomyopathy in two large families

BACKGROUND: The genetic basis for dilated cardiomyopathy (DCM) can be difficult to determine, particularly in familial cases with complex phenotypes. Next generation sequencing may be useful in the management of such cases. METHODS: We report two large families with pleiotropic inherited cardiomyopa...

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Detalles Bibliográficos
Autores principales: Hanley, Alan, Walsh, Katie A., Joyce, Caroline, McLellan, Michael A., Clauss, Sebastian, Hagen, Amaya, Shea, Marisa A., Tucker, Nathan R., Lin, Honghuang, Fahy, Gerard J., Ellinor, Patrick T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5114776/
https://www.ncbi.nlm.nih.gov/pubmed/27855642
http://dx.doi.org/10.1186/s12881-016-0347-6

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