Familial hypercholesterolemia in a rhesus monkey pedigree: molecular basis of low density lipoprotein receptor deficiency.

doi:10.1073/pnas.87.8.3122

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Article

Familial hypercholesterolemia in a rhesus monkey pedigree: molecular basis of low density lipoprotein receptor deficiency.

Proceedings of the National Academy of Sciences of the United States of America - 1 Apr 1990

Hummel M, Li Z G, Pfaffinger D, Neven L, Scanu A M

Abstract excerpt

We have recently identified a family of rhesus monkeys with members exhibiting a spontaneous hypercholesterolemia associated with a low density lipoprotein receptor (LDLR) deficiency. By using the polymerase chain reaction, we now show that the affected monkeys are heterozygous for a nonsense mutation in exon 6 of the LDLR gene. This mutation changes the sequence of the codon for amino acid 284 (tryptophan) from...

Topics

Animals
Base Sequence
Crosses, Genetic
DNA
Female
Gene Amplification
Genes
Hyperlipoproteinemia Type II
Macaca mulatta
Male
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Monkey Diseases

Mutation

Oligonucleotide Probes

Pedigree

Receptors, LDL

Transcription, Genetic

Source

Open in PubMed Open full text

Identifiers

PMID: 2326270
DOI: 10.1073/pnas.87.8.3122
PMCID: PMC53846

Genes

LDLR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2326270-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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