Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice.

doi:10.1038/s41431-018-0119-1

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Article

Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice.

European journal of human genetics : EJHG - 1 Jul 2018

Mates Jesus, Mademont-Soler Irene, Del Olmo Bernat, Ferrer-Costa Carles, Coll Monica, Pérez-Serra Alexandra, Picó Ferran, Allegue Catarina, Fernandez-Falgueras Anna, Álvarez Patricia, Yotti Raquel, Espinosa Maria Angeles, Sarquella-Brugada Georgia, Cesar Sergi, Carro Ester, Brugada Josep, Arbelo Elena, Garcia-Pavia Pablo, Borregan Mar, Tizzano Eduardo, López-Granados Amador, Mazuelos Francisco, Díaz de Bustamante Aranzazu, Darnaude Maria Teresa, González-Hevia José Ignacio, Díaz-Flores Felícitas, Trujillo Francisco, Iglesias Anna, Fernandez-Aviles Francisco, Campuzano Oscar, Brugada Ramon

Abstract excerpt

Several studies have identified copy number variants (CNVs) as responsible for cardiac diseases associated with sudden cardiac death (SCD), but very few exhaustive analyses in large cohorts of patients have been performed, and they have been generally focused on a specific SCD-related disease. The aim of the present study was to screen for CNVs the most prevalent genes associated with SCD in a large cohort of...

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PMID: 29511324
DOI: 10.1038/s41431-018-0119-1
PMCID: PMC6018743

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