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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Udgivet i:BMC Med Genet
Main Authors: 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.
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2016
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5114776/
https://ncbi.nlm.nih.gov/pubmed/27855642
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-016-0347-6
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