ALU transposition induces familial hypertrophic cardiomyopathy

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 fashion. Ho...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Nfonsam, Landry, Huang, Lijia, Carson, Nancy, McGowan‐Jordan, Jean, Beaulieu Bergeron, Melanie, Goobie, Sharan, Conacher, Susan, McCarty, David, Benson, Lee, Hewson, Stacy, Zahavich, Laura, Sinclair‐Bourque, Elizabeth, Smith, Amanda, Potter, Ryan, Ghani, Mahdi, Bronicki, Lucas, Jarinova, Olga
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6978237/
https://ncbi.nlm.nih.gov/pubmed/31568709
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.951
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