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Article

A novel missense mutation C127R (FH Zagreb) in the LDL-receptor gene.

Clinical chemistry and laboratory medicine - 1 Jun 2001

Rukavina A S, Topić R Z, Ferencak G, Sucic M

Abstract excerpt

We employed the analysis of single-strand conformation polymorphisms to identify mutations in exon 4 of the low density lipoprotein receptor gene causing familial hypercholesterolemia. Three familial hypercholesterolemia heterozygotes had abnormal single-strand conformation polymorphism patterns. DNA sequencing revealed that the abnormal pattern of exon 4A was due to heterozygosity (T/C) at nucleotide 442....

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Source

Identifiers

PMID: 11506462
DOI: 10.1515/CCLM.2001.084

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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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