Characterization of LTBP2 mutation causing mitral valve prolapse

Abstract excerpt

Abstract Aims Mitral valve prolapse (MVP) is a common valvular disorder associated with significant morbidity and mortality, with a strong genetic basis. This study aimed to identify a mutation in a family with MVP and to characterize the valve phenotype in LTBP2 knockout (KO) mice. Methods and results Exome sequencing and segregation analysis were performed on a large family with MVP. Two mouse strains were...

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