Mutations in DCHS1 cause mitral valve prolapse

Ronen Durst,Kimberly Sauls,David S. Peal,Annemarieke deVlaming,Katelynn Toomer,Maire Leyne,Monica Salani,Michael E. Talkowski,Harrison Brand,Maëlle Perrocheau,Charles Simpson, Christopher Jett,Matthew R. Stone,Florie Charles,Colby Chiang,Stacey N. Lynch,Nabila Bouatia-Naji,Francesca N. Delling,Lisa A. Freed, Christophe Tribouilloy,Thierry Le Tourneau,Hervé LeMarec,Leticia Fernandez-Friera,Jorge Solis,Daniel Trujillano,Stephan Ossowski,Xavier Estivill,Christian Dina,Patrick Bruneval,Adrian Chester,Jean-Jacques Schott,Kenneth D. Irvine,Yaopan Mao,Andy Wessels, Tahirali Motiwala,Michel Puceat,Yoshikazu Tsukasaki,Donald R. Menick,Harinath Kasiganesan,Xingju Nie,Ann-Marie Broome,Katherine Williams,Amanda Johnson,Roger R. Markwald,Xavier Jeunemaitre,Albert Hagege,Robert A. Levine,David J. Milan,Russell A. Norris,Susan A. Slaugenhaupt

Nature（2015）

引用 196|浏览93

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摘要

Two mutations in the gene DCHS1 are shown to cause non-syndromic mitral valve prolapse (MVP), a common cardiac valve disease; understanding the role of DCHS1 in mitral valve development and MVP pathogenesis holds therapeutic potential.

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Genetics research,Science,Humanities and Social Sciences,multidisciplinary

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