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Article

[Familial hypercholesterolemia in St. Petersburg: diversity of mutations argues against a strong founder effect].

Genetika - 1 Sept 2007

Zakharova F M, Tatishcheva Iu A, Golubkov V I, Lipovetskiĭ B M, Konstantinov V O, Denisenko A D, Faergeman O, Vasil'ev V B, Mandel'shtam M Iu

Abstract excerpt

Examination of low-density lipoprotein (LDL) receptor, its promoter, and major exon-intron boundaries from a sample of patients with familial hypercholesterolemia (FH) from 74 probands of St. Petersburg revealed 34 mutations and 8 widely spread polymorphisms at this locus. Only four mutations were considered silent, while the other 30 are likely associated with familial hypercholesterolemia (FH). Mutations in the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 17990524

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APOB

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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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