Article
Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy.
Heart rhythm - 1 Mar 2012
Refaat Marwan M, Lubitz Steven A, Makino Seiko, Islam Zahid, Frangiskakis J Michael, Mehdi Haider, Gutmann Rebecca, Zhang Michael L, Bloom Heather L, MacRae Calum A, Dudley Samuel C, Shalaby Alaa A, Weiss Raul, McNamara Dennis M, London Barry, Ellinor Patrick T
Abstract excerpt
BACKGROUND: Dilated cardiomyopathy (DCM) is a leading cause of heart failure and death. The etiology of DCM is genetically heterogeneous. OBJECTIVES: We sought to define the prevalence of mutations in the RNA splicing protein RBM20 in a large cohort with DCM and to determine whether genetic variation in RBM20 is associated with clinical outcomes. METHODS: Subjects included in the Genetic Risk Assessment of...
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