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Article

Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance.

The Journal of clinical endocrinology and metabolism - 1 Sept 2003

Maassen J Antonie, Tobias Edward S, Kayserilli Hülya, Tukel Turgut, Yuksel-Apak Memnune, D'Haens Esther, Kleijer Wim J, Féry Francoise, van der Zon Gerard C M

Abstract excerpt

We analyzed the insulin receptor gene in four patients with leprechaunism and one with type A insulin resistance. We detected novel and previously reported mutations. The novel mutants were expressed in Chinese hamster ovary cells to evaluate the consequences for insulin receptor function. A type A insulin resistance patient from Morocco was homozygous for Arg252His mutation, similar to a previously described...

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PMID: 12970295
DOI: 10.1210/jc.2003-030034

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

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