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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...

Topics

Adult
Alleles
Amino Acid Sequence
Base Sequence
Female
Heterozygote
Humans
Infant
Insulin Resistance
Molecular Probes
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mothers

Mutation

Pregnancy

RNA, Messenger

Receptor, Insulin

Source

Identifiers

PMID: 7714091
DOI: 10.1210/jcem.80.4.7714091

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7714091-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Insulin resistance associated with decreased levels of insulin-receptor messenger ribonucleic acid: evidence of a de novo mutation in the maternal allele.PMID 7714091Read ↗

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