The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.

doi:10.3390/genes12010066

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Article

The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.

Genes - 6 Jan 2021

Meshkov Alexey, Ershova Alexandra, Kiseleva Anna, Zotova Evgenia, Sotnikova Evgeniia, Petukhova Anna, Zharikova Anastasia, Malyshev Pavel, Rozhkova Tatyana, Blokhina Anastasia, Limonova Alena, Ramensky Vasily, Divashuk Mikhail, Khasanova Zukhra, Bukaeva Anna, Kurilova Olga, Skirko Olga, Pokrovskaya Maria, Mikova Valeriya, Snigir Ekaterina, Akinshina Alexsandra, Mitrofanov Sergey, Kashtanova Daria, Makarov Valentin, Kukharchuk Valeriy, Boytsov Sergey, Yudin Sergey, Drapkina Oxana

Abstract excerpt

Familial hypercholesterolemia (FH) is a common autosomal codominant disorder, characterized by elevated low-density lipoprotein cholesterol levels causing premature atherosclerotic cardiovascular disease. About 2900 variants of LDLR, APOB, and PCSK9 genes potentially associated with FH have been described earlier. Nevertheless, the genetics of FH in a Russian population is poorly understood. The aim of this study...

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PMID: 33418990
DOI: 10.3390/genes12010066
PMCID: PMC7825309

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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