The molecular basis of familial hypercholesterolemia in the Czech Republic: Spectrum of LDLR mutations and genotype-phenotype correlations

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F65269705%3A_____%2F12%3A%230001699" target="_blank" >RIV/65269705:_____/12:#0001699 - isvavai.cz</a>
Alternative codes found
RIV/00209775:_____/12:#0000244 RIV/00216224:14740/12:00060555
Result on the web
<a href="http://dx.doi.org/10.1016/j.atherosclerosis.2012.05.014" target="_blank" >http://dx.doi.org/10.1016/j.atherosclerosis.2012.05.014</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.atherosclerosis.2012.05.014" target="_blank" >10.1016/j.atherosclerosis.2012.05.014</a>

Result language
angličtina
Original language name
The molecular basis of familial hypercholesterolemia in the Czech Republic: Spectrum of LDLR mutations and genotype-phenotype correlations
Original language description
In this study, we characterize the spectrum of mutations causing FH in 2239 Czech probands suspected to have FH. In this set, we found 265 patients (11.8%) with the APOB mutation p.(Arg3527Gln) and 535 patients (23.9%) with a LDLR mutation. In 535 probands carrying the LDLR mutation, 127 unique allelic variants were detected: 70.1% of these variants were DNA substitutions, 16.5% small DNA rearrangements, and 13.4% large DNA rearrangements. Fifty five variants were novel, not described in other FH populations.
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FA - Cardiovascular diseases including cardio-surgery
OECD FORD branch
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Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Publication year
2012
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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