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ALU transposition induces familial hypertrophic cardiomyopathy

Abstract Background Hypertrophic cardiomyopathy (HCM) is characterized by left ventricular hypertrophy (LVH) in the absence of predisposing cardiovascular conditions. Pathogenic variants in at least 16 cardiac sarcomeric genes have been implicated in HCM, most of which act in a dominant‐negative fas...

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Principais autores: Landry Nfonsam, Lijia Huang, Nancy Carson, Jean McGowan‐Jordan, Melanie Beaulieu Bergeron, Sharan Goobie, Susan Conacher, David McCarty, Lee Benson, Stacy Hewson, Laura Zahavich, Elizabeth Sinclair‐Bourque, Amanda Smith, Ryan Potter, Mahdi Ghani, Lucas Bronicki, Olga Jarinova
Format: Artigo
Sprog:Inglês
Udgivet: Wiley 2020-01-01
Serier:Molecular Genetics & Genomic Medicine
Fag:
cardiomyopathy
copy number
deletion
MYBPC3
Online adgang:https://doi.org/10.1002/mgg3.951
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