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Article

Whole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy.

PloS one - 1 Jan 2017

Mendes de Almeida Rita, Tavares Joana, Martins Sandra, Carvalho Teresa, Enguita Francisco J, Brito Dulce, Carmo-Fonseca Maria, Lopes Luís Rocha

Abstract excerpt

BACKGROUND: 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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 28797094
DOI: 10.1371/journal.pone.0182946
PMCID: PMC5552324

Genes

MYBPC3
VCL
PRKAG2
TTN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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