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Article

Molecular characterization of a novel p.R118C mutation in the insulin receptor gene from patients with severe insulin resistance.

Clinical endocrinology - 1 Apr 2012

Alzahrani Ali S, Zou Minjing, Baitei Essa Y, Parhar Ranjit S, Al-Kahtani Nora, Raef Hussein, Almahfouz Abdulraof, Amartey John K, Al-Rijjal Roua, Hammami Rakad, Meyer Brian F, Al-Mohanna Futwan A, Shi Yufei

Abstract excerpt

CONTEXT: Mutations of the insulin receptor gene (INSR) can cause genetic syndromes associated with severe insulin resistance. OBJECTIVES: We aimed to analyse INSR mutations in Saudi patients with severe insulin resistance. DESIGN: Ten patients with Type A insulin resistance syndrome from five unrelated Saudi families were investigated. The entire coding region of INSR was sequenced. The founder effect was...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22017372
DOI: 10.1111/j.1365-2265.2011.04258.x

Genes

INSR

Provenance

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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