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Article

[New mutations in low-density lipoprotein receptor gene in familial hypercholesterolemia patients from Petrozavodsk].

Genetika - 1 Jun 2013

Komarova T Yu, Golovina A S, Grudinina N A, Zakharova F M, Korneva V A, Lipovetsky B M, Serebrenitskaya M P, Konstantinov V O, Vasilyev V B, Mandelshtam M Yu

Abstract excerpt

Using an automated fluorescent single-strand conformation polymorphism (SSCP) analysis of the entire coding region, promoter zone, and exon-intron junctions of the low-density lipoprotein (LDL) receptor gene, we examined 80 DNA samples of patients with familial hypercholesterolemia (FH) from Petrozavodsk. We revealed mutations that might cause FH in five probands, including FH-North Karelia (c.925-931del7)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 24450200
DOI: 10.7868/s0016675813040061

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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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