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Article

Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance.

The Journal of clinical investigation - 1 Jul 1990

Kadowaki T, Kadowaki H, Rechler M M, Serrano-Rios M, Roth J, Gorden P, Taylor S I

Abstract excerpt

The nucleotide sequence was determined for all 22 exons of the insulin receptor gene from three patients with genetic syndromes associated with extreme insulin resistance. In all three patients, insulin resistance was caused by decreased insulin binding to the cell surface. The patient with leprechaunism (leprechaun/Winnipeg) came from a consanguineous pedigree and was homozygous for a missense mutation...

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Identifiers

PMID: 2365819
DOI: 10.1172/JCI114693
PMCID: PMC296715

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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