Article
LMNA mutations in Polish patients with dilated cardiomyopathy: prevalence, clinical characteristics, and in vitro studies.
BMC medical genetics - 23 May 2013
Saj Michal, Bilinska Zofia T, Tarnowska Agnieszka, Sioma Agnieszka, Bolongo Pierrette, Sobieszczanska-Malek Malgorzata, Michalak Ewa, Golen Dorota, Mazurkiewicz Lukasz, Malek Lukasz, Walczak Ewa, Fidzianska Anna, Grzybowski Jacek, Przybylski Andrzej, Zielinski Tomasz, Korewicki Jerzy, Tesson Frederique, Ploski Rafal
Abstract excerpt
BACKGROUND: LMNA mutations are most frequently involved in the pathogenesis of dilated cardiomyopathy with conduction disease. The goal of this study was to identify LMNA mutations, estimate their frequency among Polish dilated cardiomyopathy patients and characterize their effect both in vivo and in vitro. METHODS: Between January, 2008 and June, 2012 two patient populations were screened for the presence of...
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