Screening for mutations in exon 4 of the LDL receptor gene: identification of a new deletion mutation.

doi:10.1136/jmg.32.5.379

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Article

Screening for mutations in exon 4 of the LDL receptor gene: identification of a new deletion mutation.

Journal of medical genetics - 1 May 1995

Theart L, Kotze M J, Langenhoven E, Loubser O, Peeters A V, Lintott C J, Scott R S

Abstract excerpt

DNA from 14 unrelated New Zealand familial hypercholesterolaemia (FH) heterozygotes, originating from the United Kingdom, was screened for mutations in exon 4 of the low density lipoprotein receptor (LDLR) gene. One patient was heterozygous for mutation D206E, which was initially identified in South Africa. The chromosomal background of this mutant allele was compatible with that described previously in Afrikaner...

Topics

Adult
Aged
Amino Acid Sequence
Base Sequence
DNA Probes
Exons
Female
Genes, Dominant
Genotype
Humans
Hyperlipoproteinemia Type II
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Middle Aged

Molecular Sequence Data

Mutation

New Zealand

Nucleic Acid Heteroduplexes

Receptors, LDL

Source

Open in PubMed Open full text

Identifiers

PMID: 7616546
DOI: 10.1136/jmg.32.5.379
PMCID: PMC1050434

Genes

LDLR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7616546-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Screening for mutations in exon 4 of the LDL receptor gene: identification of a new deletion mutation.PMID 7616546Read ↗

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