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Genetic Bases of Bicuspid Aortic Valve: The Contribution of Traditional and High-Throughput Sequencing Approaches on Research and Diagnosis

Bicuspid aortic valve (BAV) is a common (0.5–2.0% of general population) congenital heart defect with increased prevalence of aortic dilatation and dissection. BAV has an autosomal dominant inheritance with reduced penetrance and variable expressivity. BAV has been described as an isolated trait or...

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Detalles Bibliográficos
Autores principales: Giusti, Betti, Sticchi, Elena, De Cario, Rosina, Magi, Alberto, Nistri, Stefano, Pepe, Guglielmina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5573733/
https://www.ncbi.nlm.nih.gov/pubmed/28883797
http://dx.doi.org/10.3389/fphys.2017.00612