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Article

Mitochondrial 3243 BP mutation: a case report.

Diabetes, nutrition & metabolism - 1 Dec 2001

Rigoli L, Caruso R A, Zuccarello D, Rigoli M, Barberi I

Abstract excerpt

Mitochondrial DNA (mtDNA) gene defects may play a role in the development of maternally inherited diabetes mellitus and deafness (MIDD). Mutation in the mitochondrial gene at position 3243 was recently identified in several pedigrees of diabetes mellitus and deafness. As the mitochondria play an important role in glucose-stimulated insulin secretion in pancreatic beta-cells, we therefore searched for this...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 11853367

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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