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Article

Molecular scanning of the insulin receptor gene in syndromes of insulin resistance.

Diabetes - 1 Mar 1994

Krook A, Kumar S, Laing I, Boulton A J, Wass J A, O'Rahilly S

Abstract excerpt

Using the molecular scanning technique of single-stranded conformational polymorphism (SSCP), we have examined the exons encoding the insulin receptor gene in 26 patients with syndromes of insulin resistance. We found 27 variant sequences, 4 of which were mutations that altered an amino acid. One patient with the Rabson-Mendenhall syndrome was homozygous for a mutation in the extracellular alpha-subunit (Ser to...

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PMID: 8314008
DOI: 10.2337/diab.43.3.357

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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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