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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Bibliografske podrobnosti
izdano v: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
Format: Artigo
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2019
Teme:
Original Articles
Online dostop: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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