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Article

[Familial hypercholesterolemia in Russia: genetic and phenotypic characteristics].

Terapevticheskii arkhiv - 1 Jan 2009

Meshkov A N, Malyshev P P, Kukharchuk V V

Abstract excerpt

AIM: To make qualitative and quantitative analyses of phenotypical characteristics and to study a spectrum and frequency of mutations in LDLR and APOB genes in patients with familial heterozygous hypercholesterolemia (FHHC). MATERIAL AND METHODS: Clinical symptoms of FHHC were studied in males and females. Mutations were detected with PCR, analysis of SSCP of all the exones of LDLR gene and a fragment of exone 26...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19827648

Genes

APOB
LDLR

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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