Mutations in DCHS1 Cause Mitral Valve Prolapse

Mitral valve prolapse (MVP) is a common cardiac valve disease that affects nearly 1 in 40 individuals(1–3). It can manifest as mitral regurgitation and is the leading indication for mitral valve surgery(4,5). Despite a clear heritable component, the genetic etiology leading to non-syndromic MVP has...

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Bibliografiset tiedot
Julkaisussa:Nature
Päätekijät: Durst, Ronen, Sauls, Kimberly, Peal, David S, deVlaming, Annemarieke, Toomer, Katelynn, Leyne, Maire, Salani, Monica, Talkowski, Michael E., Brand, Harrison, Perrocheau, Maëlle, Simpson, Charles, Jett, Christopher, Stone, Matthew R., Charles, Florie, Chiang, Colby, Lynch, Stacey N., Bouatia-Naji, Nabila, Delling, Francesca N., Freed, Lisa A., Tribouilloy, Christophe, Le Tourneau, Thierry, LeMarec, Hervé, Fernandez-Friera, Leticia, Solis, Jorge, Trujillano, Daniel, Ossowski, Stephan, Estivill, Xavier, Dina, Christian, Bruneval, Patrick, Chester, Adrian, Schott, Jean-Jacques, Irvine, Kenneth D., Mao, Yaopan, Wessels, Andy, Motiwala, Tahirali, Puceat, Michel, Tsukasaki, Yoshikazu, Menick, Donald R., Kasiganesan, Harinath, Nie, Xingju, Broome, Ann-Marie, Williams, Katherine, Johnson, Amanda, Markwald, Roger R., Jeunemaitre, Xavier, Hagege, Albert, Levine, Robert A., Milan, David J., Norris, Russell A., Slaugenhaupt, Susan A.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2015
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Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4720389/
https://ncbi.nlm.nih.gov/pubmed/26258302
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nature14670
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