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Article

Two novel missense mutations in the LDL receptor gene causing familial hypercholesterolemia.

Clinical genetics - 1 Feb 1996

Gundersen K E, Solberg K, Rødningen O K, Tonstad S, Ose L, Berg K, Leren T P

Abstract excerpt

We have employed analysis of single-strand conformation polymorphisms to identify mutations in the low density lipoprotein receptor gene causing familial hypercholesterolemia. Two familial hypercholesterolemia heterozygotes had abnormal single-strand conformation polymorphism patterns of exons 4 and 8. DNA sequencing revealed that the abnormal pattern of exon 4 was due to heterozygosity (G/T) at nucleotide 502....

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Share to Hyperlipoproteinemia Type II

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

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Share to Polymorphism, Single-Stranded Conformational

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Source

Identifiers

PMID: 8740918
DOI: 10.1111/j.1399-0004.1996.tb04333.x

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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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