Four mutant alleles of the insulin receptor gene associated with genetic syndromes of extreme insulin resistance.

doi:10.1006/bbrc.1997.7181

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Article

Four mutant alleles of the insulin receptor gene associated with genetic syndromes of extreme insulin resistance.

Biochemical and biophysical research communications - 28 Aug 1997

Kadowaki H, Takahashi Y, Ando A, Momomura K, Kaburagi Y, Quin J D, MacCuish A C, Koda N, Fukushima Y, Taylor S I, Akanuma Y, Yazaki Y, Kadowaki T

Abstract excerpt

We identified four novel mutant alleles of the insulin receptor gene in three patients with genetic syndromes associated with insulin resistance. Two mutant alleles of the insulin receptor gene were identified in a patient with the Rabson-Mendenhall syndrome who was a compound heterozygote for a...

Topics

Alternative Splicing
Base Sequence
Cell Line
Female
Growth Disorders
Heterozygote
Humans
Insulin Resistance
Introns
Lymphocytes
Male
Mutagenesis, Site-Directed

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Point Mutation

Receptor, Insulin

Recombinant Proteins

Sequence Deletion

Syndrome

Source

Open in PubMed

Identifiers

PMID: 9299395
DOI: 10.1006/bbrc.1997.7181

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9299395-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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