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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Detaylı Bibliyografya
Yayımlandı:Circ Genom Precis Med
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Lippincott Williams & Wilkins 2020
Konular:
Original Articles
Online Erişim: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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