Article
The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation.
Journal of translational medicine - 9 Jul 2014
Franaszczyk Maria, Bilinska Zofia T, Sobieszczańska-Małek Małgorzata, Michalak Ewa, Sleszycka Justyna, Sioma Agnieszka, Małek Łukasz A, Kaczmarska Dorota, Walczak Ewa, Włodarski Paweł, Hutnik Łukasz, Milanowska Blanka, Dzielinska Zofia, Religa Grzegorz, Grzybowski Jacek, Zieliński Tomasz, Ploski Rafal
Abstract excerpt
BACKGROUND: BAG3 gene mutations have been recently implicated as a novel cause of dilated cardiomyopathy (DCM). Our aim was to evaluate the prevalence of BAG3 mutations in Polish patients with DCM and to search for genotype-phenotype correlations. METHODS: We studied 90 unrelated probands by direct sequencing of BAG3 exons and splice sites. Large deletions/insertions were screened for by quantitative real time...
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