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Article

Two novel low-density lipoprotein receptor gene mutations (E397X and 347delGCC) in St. Petersburg familial hypercholesterolemia.

Molecular genetics and metabolism - 1 Dec 1998

Chakir K, Kh C, Ju M M, Shevtsov S P, Golubkov V I, Skobeleva N A, Shur Y A, Zakharova F M, Lipovetskyi B M, Konstantinov V O, Denisenko A D, Gaitskhoki V S, Schwartz E I

Abstract excerpt

Familial hypercholesterolemia (FH), a monogenic disease known to be caused by low-density lipoprotein receptor (LDLR) gene mutations, results in the development of premature atherosclerosis and coronary artery disease in affected individuals. The spectrum of LDLR gene mutations in Russia is poorly known. Using polymerase chain reaction (PCR)-single-strand conformational polymorphism (SSCP) analysis, followed by...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 9889019
DOI: 10.1006/mgme.1998.2762

Genes

LDLR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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