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

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Mendes de Almeida, Rita, Tavares, Joana, Martins, Sandra, Carvalho, Teresa, Enguita, Francisco J., Brito, Dulce, Carmo-Fonseca, Maria, Lopes, Luís Rocha
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/PMC5552324/
https://www.ncbi.nlm.nih.gov/pubmed/28797094
http://dx.doi.org/10.1371/journal.pone.0182946

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5552324/
https://www.ncbi.nlm.nih.gov/pubmed/28797094
http://dx.doi.org/10.1371/journal.pone.0182946

Ejemplares similares