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Molecular genetic background of an autosomal dominant hypercholesterolemia in the Czech Republic

L. Tichý, L. Fajkusová, P. Zapletalová, L. Schwarzová, M. Vrablík, T. Freiberger

. 2017 ; 66 (Supplementum 1) : S47-S54. [pub] 2017Apr05
. 2017 ; () : S47-S54.

Jazyk angličtina Země Česko

Typ dokumentu časopisecké články, přehledy

Perzistentní odkaz   https://www.medvik.cz/link/bmc19030533

Grantová podpora
NV15-28277A MZ0 CEP - Centrální evidence projektů
NV16-29084A MZ0 CEP - Centrální evidence projektů

Autosomal dominant hypercholesterolemia (ADH), more known as familial hypercholesterolemia (FH), is a lipid metabolism disorder characterized by an elevation in low-density lipoprotein cholesterol (LDL-C) and increased risk for cardiovascular disease. In this study, we assessed a spectrum of mutations causing ADH in 3914 unrelated Czech patients with clinical diagnosis of hypercholesterolemia. Samples have been collected within the framework of the MedPed project running in the Czech Republic since 1998. So far we have found 432 patients (11.0 %) with the APOB gene mutation p.(Arg3527Gln) and 864 patients (22.1 %) with the LDLR gene mutation. In 864 probands carrying the LDLR gene mutation, 182 unique allelic variants were detected. We have identified 14 patients homozygous for mutations in the LDLR or APOB genes. We performed function analyses of p.(Leu15Pro) and p.(Gly20Arg) sequence variations.

Citace poskytuje Crossref.org

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