Deleterious variants in DCHS1 are prevalent in sporadic cases of mitral valve prolapse

BACKGROUND: A recent study identified DCHS1 as a causal gene for mitral valve prolapse. The goal of this study is to investigate the presence and frequency of known and novel variants in this gene in 100 asymptomatic patients with moderate to severe organic mitral regurgitation. METHODS: DNA sequenc...

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Salvato in:
Dettagli Bibliografici
Pubblicato in:Mol Genet Genomic Med
Autori principali: Clemenceau, Alisson, Bérubé, Jean‐Christophe, Bélanger, Paméla, Gaudreault, Nathalie, Lamontagne, Maxime, Toubal, Oumhani, Clavel, Marie‐Annick, Capoulade, Romain, Mathieu, Patrick, Pibarot, Philippe, Bosse, Yohan
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2017
Soggetti:
Clinical Reports
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5823682/
https://ncbi.nlm.nih.gov/pubmed/29224215
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.347
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