Association of Cardiomyopathy With MYBPC3 D389V and MYBPC3(Δ25bp)Intronic Deletion in South Asian Descendants

IMPORTANCE: The genetic variant MYBPC3(Δ25bp) occurs in 4% of South Asian descendants, with an estimated 100 million carriers worldwide. MYBPC3 (Δ25bp) has been linked to cardiomyopathy and heart failure. However, the high prevalence of MYBPC3(Δ25bp) suggests that other stressors act in concert with...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:JAMA Cardiol
Prif Awduron: Viswanathan, Shiv Kumar, Puckelwartz, Megan J., Mehta, Ashish, Ramachandra, Chrishan J. A., Jagadeesan, Aravindakshan, Fritsche-Danielson, Regina, Bhat, Ratan V., Wong, Philip, Kandoi, Sangeetha, Schwanekamp, Jennifer A., Kuffel, Gina, Pesce, Lorenzo L., Zilliox, Michael J., Durai, U. Nalla B., Verma, Rama Shanker, Molokie, Robert E., Suresh, Domodhar P., Khoury, Philip R., Thomas, Annie, Sanagala, Thriveni, Tang, Hak Chiaw, Becker, Richard C., Knöll, Ralph, Shim, Winston, McNally, Elizabeth M., Sadayappan, Sakthivel
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: American Medical Association 2018
Pynciau:
Original Investigation
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6054452/
https://ncbi.nlm.nih.gov/pubmed/29641836
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamacardio.2018.0618
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