Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy

INTRODUCTION: Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited heart disease. Next-generation sequencing (NGS) is the preferred genetic test, but the diagnostic value of screening for minor and candidate genes, and the role of copy number variants (CNVs) deserves further evaluation....

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Detalles Bibliográficos
Autores principales: Mademont-Soler, Irene, Mates, Jesus, Yotti, Raquel, Espinosa, Maria Angeles, Pérez-Serra, Alexandra, Fernandez-Avila, Ana Isabel, Coll, Monica, Méndez, Irene, Iglesias, Anna, del Olmo, Bernat, Riuró, Helena, Cuenca, Sofía, Allegue, Catarina, Campuzano, Oscar, Picó, Ferran, Ferrer-Costa, Carles, Álvarez, Patricia, Castillo, Sergio, Garcia-Pavia, Pablo, Gonzalez-Lopez, Esther, Padron-Barthe, Laura, Díaz de Bustamante, Aranzazu, Darnaude, María Teresa, González-Hevia, José Ignacio, Brugada, Josep, Fernandez-Aviles, Francisco, Brugada, Ramon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5542623/
https://www.ncbi.nlm.nih.gov/pubmed/28771489
http://dx.doi.org/10.1371/journal.pone.0181465

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