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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:PLoS One
Prif Awduron: 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.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Public Library of Science 2018
Pynciau:
Research Article
Mynediad Ar-lein: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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