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...

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Publicat a:PLoS One
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2018
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6147424/
https://ncbi.nlm.nih.gov/pubmed/30235249
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0203422
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