Article
Mutational screening of phospholamban gene in hypertrophic and idiopathic dilated cardiomyopathy and functional study of the PLN -42 C>G mutation.
European journal of heart failure - 1 Jan 2007
Medin Maria, Hermida-Prieto Manuel, Monserrat Lorenzo, Laredo Rafael, Rodriguez-Rey Jose Carlos, Fernandez Xustox, Castro-Beiras Alfonso
Abstract excerpt
BACKGROUND: Phospholamban is an endogenous sarcoplasmic reticulum calcium ATPase inhibitor with a regulatory effect on cardiac contraction/relaxation coupling. Mutations in the phospholamban gene (PLN) have been associated with primary cardiomyopathies. AIMS: To screen for PLN mutations in our population of patients with primary cardiomyopathies and to perform functional analysis of the mutations identified....
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