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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Veröffentlicht in:	PloS one 2023-12, Vol.18 (12), p.e0294969-e0294969
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Age Asymptomatic Balkan Peninsula Biology and Life Sciences Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy, Hypertrophic - diagnosis Cardiomyopathy, Hypertrophic - genetics Care and treatment Cohort Studies Computer and Information Sciences Coronary artery disease Diagnosis Engineering and Technology Formins - genetics Founder effect Genes Genetic diversity Genetic variance Genomic analysis Genotype & phenotype Haplotypes Health aspects Heart diseases Heterozygote Humans Medicine and Health Sciences Mutation Population studies Proteins Retrospective Studies Whole genome sequencing Young adults
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