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Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death

BACKGROUND: Potentially lethal and heritable cardiomyopathies and cardiac channelopathies are caused by heterogeneous autosomal dominant mutations in over 50 distinct genes, and multiple genes are responsible for a given disease. Clinical genetic tests are available for several of the inherited card...

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Publicado en:BMC Med Genet
Main Authors: Bagnall, Richard D, Molloy, Laura K, Kalman, Jonathan M, Semsarian, Christopher
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2014
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4355500/
https://ncbi.nlm.nih.gov/pubmed/25224718
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-014-0099-0
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