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Article

[Familial hypercholesterolemia due to a new mutation in the low density lipoprotein receptor gene].

Klinicheskaia meditsina - 1 Jan 2014

Korneva V A, Bogoslovskaia T Iu, Kuznetsova T Iu, Mandel'shtam M Iu, Vasil'ev V B

Abstract excerpt

UNLABELLED: Familial hypercholesterolemia (FHC) is a genetic disorder manifest as a rise in serum cholesterol level responsible for the development ofcardiovascular diseases. AIM: To study genetic peculiarities of FHC in Kareliya. MATERIALS AND METHODS: 109 patients of the 196 ones with FHC (124 families) were subjected to genetic examination. Other parameters studied included the lipid spectrum, blood glucose...

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Share to Apolipoprotein B-100
Share to Hyperlipoproteinemia Type II

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Polymorphism, Single-Stranded Conformational

Share to Proprotein Convertase 9

Share to Proprotein Convertases

Share to Receptors, LDL

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Source

Identifiers

PMID: 25775905

Genes

APOB
PCSK9

Variants

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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