Article
Phenotype and progression among patients with dilated cardiomyopathy and RBM20 mutations.
European journal of medical genetics - 1 Sept 2021
Robles-Mezcua Ainhoa, Rodríguez-Miranda Laura, Morcillo-Hidalgo Luis, Jiménez-Navarro Manuel, García-Pinilla José Manuel
Abstract excerpt
BACKGROUND: Over 70 genes that encode different cell components have been involved in the aetiology of dilated cardiomyopathy. Genotype-phenotype interactions are an unsolved problem, and to a large extent the effects of mutations in the expression mechanisms involved in the disease remain unknown, although associations are increasingly being established which have clinical and prognostic implications. METHODS...
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