A nonsense mutation causing decreased levels of insulin receptor mRNA: detection by a simplified technique for direct sequencing of genomic DNA amplified by the polymerase chain reaction.

doi:10.1073/pnas.87.2.658

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Article

A nonsense mutation causing decreased levels of insulin receptor mRNA: detection by a simplified technique for direct sequencing of genomic DNA amplified by the polymerase chain reaction.

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

Kadowaki T, Kadowaki H, Taylor S I

Abstract excerpt

Mutations in the insulin receptor gene can render the cell resistant to the biological action of insulin. We have studied a patient with leprechaunism (leprechaun/Minn-1), a genetic syndrome associated with intrauterine growth retardation and extreme insulin resistance. Genomic DNA from the patie...

Topics

Alleles
Base Sequence
DNA
Exons
Female
Genes
Humans
Male
Metabolism, Inborn Errors
Molecular Sequence Data
Mutation
Oligonucleotide Probes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymerase Chain Reaction

RNA, Messenger

Receptor, Insulin

Reference Values

Syndrome

Transcription, Genetic

Source

Open in PubMed Open full text

Identifiers

PMID: 2300553
DOI: 10.1073/pnas.87.2.658
PMCID: PMC53324

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-2300553-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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