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Article

Methionine for valine substitution in exon 17 of the insulin receptor gene in a pedigree with familial NIDDM.

Diabetes - 1 Mar 1993

Elbein S C, Sorensen L K, Schumacher M C

Abstract excerpt

INSR gene mutations have been described in multiple individuals with extreme insulin resistance, but the INSR gene has not been implicated in familial NIDDM. We previously have screened members of 18 familial NIDDM pedigrees for mutations in exons encoding the tyrosine kinase domain of the INSR gene (exons 13-21) by SSCP. That analysis initially detected only patterns consistent with silent polymorphisms, but on...

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Identifiers

PMID: 8432414
DOI: 10.2337/diab.42.3.429

Genes

INSR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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