Association of Cardiomyopathy With <i>MYBPC3</i> D389V and <i>MYBPC3<sup>Δ25bp</sup></i>Intronic Deletion in South Asian Descendants

Association of Cardiomyopathy With <i>MYBPC3</i> D389V and <i>MYBPC3<sup>Δ25bp</sup></i>Intronic Deletion in South Asian Descendants

<h3>Importance</h3> The genetic variant<i>MYBPC3Δ25bp</i>occurs in 4% of South Asian descendants, with an estimated 100 million carriers worldwide.<i>MYBPC3 Δ25bp</i>has been linked to cardiomyopathy and heart failure. However, the high prevalence of<i>MYBPC...

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Autors principals: Shiv Kumar Viswanathan, Megan J. Puckelwartz, Ashish Mehta, Chrishan J. A. Ramachandra, Aravindakshan Jagadeesan, Regina Fritsche‐Danielson, Ratan V. Bhat, Philip Wong, Sangeetha Kandoi, Jennifer A. Schwanekamp, Gina Kuffel, Lorenzo L. Pesce, Michael J. Zilliox, U. Nalla B. Durai, Rama Shanker Verma, Robert E. Molokie, Domodhar P. Suresh, Philip R. Khoury, Annie Thomas, Thriveni Sanagala, Hak Chiaw Tang, Richard C. Becker, Ralph Knöll, Winston Shim, Elizabeth M. McNally, Sakthivel Sadayappan
Format: Artigo
Idioma:anglès
Publicat: 2018
Accés en línia:https://doi.org/10.1001/jamacardio.2018.0618
https://jamanetwork.com/journals/jamacardiology/articlepdf/2678114/jamacardiology_viswanathan_2018_oi_180014.pdf
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Internet

https://doi.org/10.1001/jamacardio.2018.0618
https://jamanetwork.com/journals/jamacardiology/articlepdf/2678114/jamacardiology_viswanathan_2018_oi_180014.pdf

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