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....

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:PLoS One
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Public Library of Science 2017
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5542623/
https://ncbi.nlm.nih.gov/pubmed/28771489
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0181465
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