Article
Functional characterization of human myosin-binding protein C3 variants associated with hypertrophic cardiomyopathy reveals exon-specific cardiac phenotypes in zebrafish model.
Journal of cellular physiology - 1 Nov 2020
Da'as Sahar I, Yalcin Huseyin C, Nasrallah Gheyath K, Mohamed Iman A, Nomikos Michail, Yacoub Magdi H, Fakhro Khalid A
Abstract excerpt
Myosin-binding protein C 3 (MYBPC3) variants are the most common cause of hypertrophic cardiomyopathy (HCM). HCM is a complex cardiac disorder due to its significant genetic and clinical heterogeneity. MYBPC3 variants genotype-phenotype associations remain poorly understood. We investigated the impact of two novel human MYBPC3 splice-site variants: V1: c.654+2_654+4dupTGG targeting exon 5 using morpholino MOe5i5;...
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