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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Dades bibliogràfiques
Publicat a:Circ Genom Precis Med
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Lippincott Williams & Wilkins 2020
Matèries:
Original Articles
Accés en línia: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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