Lipoatrophic diabetes: genetic exclusion of the insulin receptor gene.

doi:10.1210/jcem.80.1.7829633

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Article

Lipoatrophic diabetes: genetic exclusion of the insulin receptor gene.

The Journal of clinical endocrinology and metabolism - 1 Jan 1995

Desbois-Mouthon C, Magré J, Amselem S, Reynet C, Blivet M J, Goossens M, Capeau J, Besmond C

Abstract excerpt

Lipoatrophic diabetes (LD) is a syndrome with congenital or delayed onset, characterized by severe insulin resistance and generalized lipoatrophy. Using denaturing gradient gel electrophoresis and sequencing, we have investigated the contribution of defects in the insulin receptor (IR) gene in LD...

Topics

Adolescent
Adult
Alleles
Base Sequence
Child
Child, Preschool
Diabetes Mellitus, Lipoatrophic
Electrophoresis
Female
Genes
Genetic Linkage
Genotype
Humans
Infant
Male
Molecular Probes
Molecular Sequence Data
Mutation

Source

Open in PubMed

Identifiers

PMID: 7829633
DOI: 10.1210/jcem.80.1.7829633

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7829633-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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