Utilize este identificador para referenciar este registo: http://hdl.handle.net/10451/34199
Título: Whole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy
Autor: Almeida, Rita Mendes de
Tavares, Joana
Martins, Sandra
Carvalho, Teresa
Enguita, Francisco J.
Brito, Dulce
Fonseca, Maria Carmo
Lopes, Luís Rocha
Data: 2017
Editora: Public Library of Science
Citação: PLoS ONE 12(8): e0182946
Resumo: High throughput sequencing technologies have revolutionized the identification of mutations responsible for genetic diseases such as hypertrophic cardiomyopathy (HCM). However, approximately 50% of individuals with a clinical diagnosis of HCM have no causal mutation identified. This may be due to the presence of pathogenic mutations located deep within the introns, which are not detected by conventional sequencing analysis restricted to exons and exon-intron boundaries.
Descrição: © 2017 Mendes de Almeida et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Peer review: yes
URI: http://hdl.handle.net/10451/34199
DOI: 10.1371/journal.pone.0182946
ISSN: 1932-6203
Versão do Editor: http://journals.plos.org/plosone/
Aparece nas colecções:IMM - Artigos em Revistas Internacionais
FM-CCUL-Artigos em Revistas Internacionais

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