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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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Clemenceau, Alisson, Bérubé, Jean‐Christophe, Bélanger, Paméla, Gaudreault, Nathalie, Lamontagne, Maxime, Toubal, Oumhani, Clavel, Marie‐Annick, Capoulade, Romain, Mathieu, Patrick, Pibarot, Philippe, Bosse, Yohan
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2017
Assuntos:
Clinical Reports
Acesso em linha: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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