Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure

During the last two decades, mutations in sarcomere genes have found to comprise the most common cause for hypertrophic cardiomyopathy (HCM), but still significant number of patients with dominant HCM in the family are left without molecular genetic diagnosis. Next generation sequencing (NGS) does n...

Descripción completa

Detalles Bibliográficos
Autores principales: Vanninen, Sari U. M., Leivo, Krista, Seppälä, Eija H., Aalto-Setälä, Katriina, Pitkänen, Olli, Suursalmi, Piia, Annala, Antti-Pekka, Anttila, Ismo, Alastalo, Tero-Pekka, Myllykangas, Samuel, Heliö, Tiina M., Koskenvuo, Juha W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6147424/
https://www.ncbi.nlm.nih.gov/pubmed/30235249
http://dx.doi.org/10.1371/journal.pone.0203422

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6147424/
https://www.ncbi.nlm.nih.gov/pubmed/30235249
http://dx.doi.org/10.1371/journal.pone.0203422

Ejemplares similares