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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Gepubliceerd in:BMC Med Genet
Hoofdauteurs: 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.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BioMed Central 2016
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Research Article
Online toegang: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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