A novel splice-site FHOD3 founder variant is a common cause of hypertrophic cardiomyopathy in the population of the Balkans–A cohort study

Founder variants in sarcomere protein genes account for a significant proportion of disease-causing variants in patients with hypertrophic cardiomyopathy (HCM). However, information on founder variants in non-sarcomeric protein genes, such as FHOD3, which have only recently been associated with HCM,...

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Detalles Bibliográficos
Autores principales: Vodnjov, Nina, Toplišek, Janez, Maver, Aleš, Čuturilo, Goran, Jaklič, Helena, Teran, Nataša, Višnjar, Tanja, Škrjanec Pušenjak, Maruša, Hodžić, Alenka, Miljanović, Olivera, Peterlin, Borut, Writzl, Karin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10697513/
http://dx.doi.org/10.1371/journal.pone.0294969

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10697513/
http://dx.doi.org/10.1371/journal.pone.0294969

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