Mutations in DCHS1 cause mitral valve prolapse
Durst R, Sauls K, Peal DS, deVlaming A, Toomer K, Leyne M, Salani M, Talkowski ME, Brand H, Perrocheau M, Simpson C, Jett C, Stone MR, Charles F, Chiang C, Lynch SN, Bouatia-Naji N, Delling FN, Freed LA, Tribouilloy C, Le Tourneau T, LeMarec H, Fernandez-Friera L, Solis J, Trujillano D, Ossowski S, Estivill X, Dina C, Bruneval P, Chester A, Schott JJ, Irvine KD, Mao Y, Wessels A, Motiwala T, Puceat M, Tsukasaki Y, Menick DR, Kasiganesan H, Nie X, Broome AM, Williams K, Johnson A, Markwald RR, Jeunemaitre X, Hagege A, Levine RA, Milan DJ, Norris RA, Slaugenhaupt SA. Mutations in DCHS1 cause mitral valve prolapse. Nature 2015, 525: 109-113. PMID: 26258302, PMCID: PMC4720389, DOI: 10.1038/nature14670.Peer-Reviewed Original ResearchConceptsMitral valve prolapseValve prolapseCardiac valve diseaseValve diseaseTherapeutic potentialProlapseNon-syndromic mitral valve prolapseValve developmentPathogenesisMutationsDisease
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