Reduced mRNA and a nonsense mutation in the insulin-receptor gene produce heritable severe insulin resistance.

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Article

Reduced mRNA and a nonsense mutation in the insulin-receptor gene produce heritable severe insulin resistance.

American journal of human genetics - 1 May 1992

Longo N, Langley S D, Griffin L D, Elsas L J

Abstract excerpt

Leprechaunism is an autosomal recessive syndrome of severe insulin resistance and is characterized by intrauterine growth restriction, acanthosis nigricans, hirsutism, and loss of glucose homeostasis. Here we report a new female patient of Hispanic and Afro-American descent whose fibroblasts and...

Topics

Base Sequence
Black People
Blotting, Northern
Cells, Cultured
Epidermal Growth Factor
Female
Growth Disorders
Heterozygote
Humans
Infant
Insulin
Insulin Resistance

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Insulin-Like Growth Factor I

Molecular Sequence Data

Mutation

Phosphorylation

Phosphotransferases

RNA, Messenger

Source

Open in PubMed Open full text

Identifiers

PMID: 1315125
PMCID: PMC1682601

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1315125-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Reduced mRNA and a nonsense mutation in the insulin-receptor gene produce heritable severe insulin resistance.PMID 1315125Read ↗

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Deletion of 3 basepairs resulting in the loss of lysine-121 in the insulin receptor alpha-subunit in a patient with leprechaunism: binding, phosphorylation, and biological activity.Semantic proximity Read ↗

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