Genetics of Familial Hypercholesterolemia: New Insights
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F20%3A10417006" target="_blank" >RIV/00216208:11110/20:10417006 - isvavai.cz</a>
Alternative codes found
RIV/00216224:14110/20:00116818 RIV/00209775:_____/20:N0000023 RIV/65269705:_____/20:00073593 RIV/00179906:_____/20:10417006 and 2 more
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=UyGei5hVGC" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=UyGei5hVGC</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.3389/fgene.2020.574474" target="_blank" >10.3389/fgene.2020.574474</a>
Alternative languages
Result language
angličtina
Original language name
Genetics of Familial Hypercholesterolemia: New Insights
Original language description
Familial hypercholesterolemia (FH) is one of the most common monogenic diseases, leading to an increased risk of premature atherosclerosis and its cardiovascular complications due to its effect on plasma cholesterol levels. Variants of three genes (LDL-R,APOBandPCSK9) are the major causes of FH, but in some probands, the FH phenotype is associated with variants of other genes. Alternatively, the typical clinical picture of FH can result from the accumulation of common cholesterol-increasing alleles (polygenic FH). Although the Czech Republic is one of the most successful countries with respect to FH detection, approximately 80% of FH patients remain undiagnosed. The opportunities for international collaboration and experience sharing within international programs (e.g., EAS FHSC, ScreenPro FH, etc.) will improve the detection of FH patients in the future and enable even more accessible and accurate genetic diagnostics.
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
2020
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Frontiers in Genetics
ISSN
1664-8021
e-ISSN
—
Volume of the periodical
11
Issue of the periodical within the volume
October
Country of publishing house
CH - SWITZERLAND
Number of pages
10
Pages from-to
574474
UT code for WoS article
000579816200001
EID of the result in the Scopus database
2-s2.0-85093846643