Reevaluation of the South Asian MYBPC3(Δ25bp) Intronic Deletion in Hypertrophic Cardiomyopathy

The common intronic deletion, MYBPC3(Δ25), detected in 4% to 8% of South Asian populations, is reported to be associated with cardiomyopathy, with ≈7-fold increased risk of disease in variant carriers. Here, we examine the contribution of MYBPC3(Δ25) to hypertrophic cardiomyopathy (HCM) in a large p...

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Detalhes bibliográficos
Publicado no:Circ Genom Precis Med
Main Authors: Harper, Andrew R., Bowman, Michael, Hayesmoore, Jesse B.G., Sage, Helen, Salatino, Silvia, Blair, Edward, Campbell, Carolyn, Currie, Bethany, Goel, Anuj, McGuire, Karen, Ormondroyd, Elizabeth, Sergeant, Kate, Waring, Adam, Woodley, Jessica, Kramer, Christopher M., Neubauer, Stefan, Farrall, Martin, Watkins, Hugh, Thomson, Kate L.
Formato: Artigo
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2020
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7299222/
https://ncbi.nlm.nih.gov/pubmed/32163302
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCGEN.119.002783
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