Amplification and analysis of promoter region of insulin receptor gene in a patient with leprechaunism associated with severe insulin resistance.

doi:10.1016/0026-0495(95)90048-9

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Article

Amplification and analysis of promoter region of insulin receptor gene in a patient with leprechaunism associated with severe insulin resistance.

Metabolism: clinical and experimental - 1 Apr 1995

Haruta T, Imamura T, Iwanishi M, Egawa K, Goji K, Kobayashi M

Abstract excerpt

A patient with leprechaunism associated with severe insulin resistance was studied to identify the molecular and genetic basis for insulin resistance. Insulin binding and surface labeling of transformed lymphocytes prepared from the patient showed a significantly decreased insulin receptor number on the cell surface. Southern blot analysis of the insulin receptor gene showed no evidence of large insertions or...

Topics

Alleles
Base Sequence
Blotting, Southern
Developmental Disabilities
Endocrine System Diseases
Female
Humans
Infant
Insulin Resistance
Lymphocyte Activation
Lymphocytes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Probes

Molecular Sequence Data

Polymerase Chain Reaction

Promoter Regions, Genetic

RNA, Messenger

Receptor, Insulin

Syndrome

Source

Open in PubMed

Identifiers

PMID: 7536883
DOI: 10.1016/0026-0495(95)90048-9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7536883-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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