Genetics of Familial Hypercholesterolemia: New Insights.
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ABSTRACT:
SUBMITTER: Vrablik M
PROVIDER: S-EPMC7575810 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Publications
Genetics of Familial Hypercholesterolemia: New Insights.
Vrablik Michal M Tichý Lukas L Freiberger Tomas T Blaha Vladimir V Satny Martin M Hubacek Jaroslav A JA
Frontiers in genetics 20201007
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 (<i>LDL-R</i>, <i>APOB</i> and <i>PCSK9</i>) 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 cho ...[more]
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