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@article{1688924,
author = {Vrablik, Michal and Tichy, Lukas and Freiberger, Tomáš and Blaha, Vladimir and Satny, Martin and Hubacek, Jaroslav A.},
article_location = {Laussane},
article_number = {OCT 2020},
doi = {http://dx.doi.org/10.3389/fgene.2020.574474},
keywords = {familial hypercholesterolemia; gene score; epidemiology; variants; polygenic FH},
language = {eng},
issn = {1664-8021},
journal = {Frontiers in Genetics},
title = {Genetics of Familial Hypercholesterolemia: New Insights},
url = {https://www.frontiersin.org/articles/10.3389/fgene.2020.574474/full},
volume = {11},
year = {2020}
}
TY - JOUR
ID - 1688924
AU - Vrablik, Michal - Tichy, Lukas - Freiberger, Tomáš - Blaha, Vladimir - Satny, Martin - Hubacek, Jaroslav A.
PY - 2020
TI - Genetics of Familial Hypercholesterolemia: New Insights
JF - Frontiers in Genetics
VL - 11
IS - OCT 2020
SP - 1-10
EP - 1-10
PB - FRONTIERS MEDIA SA
SN - 16648021
KW - familial hypercholesterolemia
KW - gene score
KW - epidemiology
KW - variants
KW - polygenic FH
UR - https://www.frontiersin.org/articles/10.3389/fgene.2020.574474/full
L2 - https://www.frontiersin.org/articles/10.3389/fgene.2020.574474/full
N2 - 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.
ER -
VRABLIK, Michal, Lukas TICHY, Tomáš FREIBERGER, Vladimir BLAHA, Martin SATNY a Jaroslav A. HUBACEK. Genetics of Familial Hypercholesterolemia: New Insights. \textit{Frontiers in Genetics}. Laussane: FRONTIERS MEDIA SA, 2020, roč.~11, OCT 2020, s.~1-10. ISSN~1664-8021. Dostupné z: https://dx.doi.org/10.3389/fgene.2020.574474.
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