Molecular Genetic Background of an Autosomal Dominant Hypercholesterolemia in the Czech Republic
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F17%3A10361242" target="_blank" >RIV/00216208:11110/17:10361242 - isvavai.cz</a>
Alternative codes found
RIV/00216224:14740/17:00097347 RIV/00209775:_____/17:N0000026 RIV/65269705:_____/17:00067340 RIV/00064165:_____/17:10361242
Result on the web
<a href="http://www.biomed.cas.cz/physiolres/pdf/66/66_S47.pdf" target="_blank" >http://www.biomed.cas.cz/physiolres/pdf/66/66_S47.pdf</a>
DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
Molecular Genetic Background of an Autosomal Dominant Hypercholesterolemia in the Czech Republic
Original language description
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.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30201 - Cardiac and Cardiovascular systems
Result continuities
Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2017
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Physiological Research
ISSN
0862-8408
e-ISSN
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Volume of the periodical
66
Issue of the periodical within the volume
Suppl. 1
Country of publishing house
CZ - CZECH REPUBLIC
Number of pages
8
Pages from-to
"S47"-"S54"
UT code for WoS article
000398620900006
EID of the result in the Scopus database
2-s2.0-85017173443