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Article

Substitution of Leu for Pro-193 in the insulin receptor in a patient with a genetic form of severe insulin resistance.

Human molecular genetics - 1 Sept 1993

Carrera P, Cordera R, Ferrari M, Cremonesi L, Taramelli R, Andraghetti G, Carducci C, Dozio N, Pozza G, Taylor S I

Abstract excerpt

Mutations have been identified in the insulin receptor (IR) gene in patients who are insensitive to insulin action. We studied an extremely insulin resistant patient whose insulin binding to Epstein-Barr virus (EBV) transformed lymphocytes was severely reduced. Transmembrane signalling, evaluated as insulin receptor autophosphorylation, was normal. The patient's IR was immunoprecipitated normally by AbP6, a...

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Identifiers

PMID: 8242067
DOI: 10.1093/hmg/2.9.1437

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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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