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Insulin gene mutations as cause of diabetes in children negative for five type 1 diabetes autoantibodies.

Diabetes care - 1 Jan 2009

Bonfanti Riccardo, Colombo Carlo, Nocerino Valentina, Massa Ornella, Lampasona Vito, Iafusco Dario, Viscardi Matteo, Chiumello Giuseppe, Meschi Franco, Barbetti Fabrizio

Abstract excerpt

OBJECTIVE: Heterozygous, gain-of-function mutations of the insulin gene can cause permanent diabetes with onset ranging from the neonatal period through adulthood. The aim of our study was to screen for the insulin gene in patients who had been clinically classified as type 1 diabetic but who tested negative for type 1 diabetes autoantibodies. RESEARCH DESIGN AND METHODS: We reviewed the clinical records of 326...

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Source

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Identifiers

PMID: 18840770
DOI: 10.2337/dc08-0783
PMCID: PMC2606844

Genes

INS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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