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Article

Insulin resistance associated with decreased levels of insulin-receptor messenger ribonucleic acid: evidence of a de novo mutation in the maternal allele.

The Journal of clinical endocrinology and metabolism - 1 Apr 1995

Suzuki Y, Hatanaka Y, Taira M, Shimada F, Hashimoto N, Takayanagi M, Taylor S I, Makino H, Yoshida S

Abstract excerpt

Mutations in the insulin receptor gene may lead to insulin resistance and diabetes mellitus in some patients. We have studied an insulin-resistant patient with leprechaunism. Insulin binding to the patient's fibroblasts was markedly decreased. Determination of the nucleotide sequence of the patient's insulin receptor gene revealed heterozygosity for a 2-basepair deletion in exon 15. If the premessenger...

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Source

Identifiers

PMID: 7714091
DOI: 10.1210/jcem.80.4.7714091

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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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