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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7299222/
https://www.ncbi.nlm.nih.gov/pubmed/32163302
http://dx.doi.org/10.1161/CIRCGEN.119.002783

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