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Article

Familial hypercholesterolaemia caused by a non-sense mutation in codon 329 of the LDL receptor gene.

Scandinavian journal of clinical and laboratory investigation - 1 Dec 1994

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

Abstract excerpt

Analysis of single-strand conformation polymorphisms (SSCP) was employed to screen familial hypercholesterolaemia (FH) subjects for point mutations in exon 7 of the low density lipoprotein receptor (LDLR) gene. An abnormal band pattern was found in one out of 100 unrelated FH subjects. The underlying mutation was found by DNA sequencing to be due to heterozygosity (C/T) at nucleotide 1048. Nucleotide 1048 is the...

Topics

Codon
Exons
Haplotypes
Humans
Hyperlipoproteinemia Type II
Mutation
Polymorphism, Single-Stranded Conformational
Receptors, LDL
Sequence Analysis, DNA

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 7709162
DOI: 10.3109/00365519409087539

Genes

LDLR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7709162-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Familial hypercholesterolaemia caused by a non-sense mutation in codon 329 of the LDL receptor gene.PMID 7709162Read ↗

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

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