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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Publicat a:Mol Genet Genomic Med
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2019
Matèries:
Original Articles
Accés en línia: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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