Article

Characterization of LTBP2 mutation causing Mitral Valve Prolapse

2024-07-24

Abstract excerpt

<h4>Background</h4> Mitral Valve Prolapse (MVP) is a prevalent valvular disorder linked to considerable morbidity and mortality, affecting approximately 2.4% of the general population. A prior genome association study linked LTBP2 to this trait. We report a knockout mouse with LTBP2 mutation demonstrating valve phenotype as well as a family with a novel mutation causing MVP <h4>Methods</h4> Exome sequencing and se...

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Literature Corpus work: b2eb35f3-43e6-5814-98ea-2cae542f4e49
DOI: 10.1101/2024.07.21.24302849

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