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Article

Cosegregation of MIDD and MODY in a pedigree: functional and clinical consequences.

Diabetes - 1 Jul 2004

Cervin Camilla, Liljeström Brita, Tuomi Tiinamaija, Heikkinen Seija, Tapanainen Juha S, Groop Leif, Cilio Corrado M

Abstract excerpt

The aim of this study was characterization of a family carrying two mutations known to cause monogenic forms of diabetes, the M626K mutation in the HNF1alpha gene (MODY3) and the A3243G in mtDNA. Beta-cell function and insulin sensitivity were assessed with the Botnia clamp. Heteroplasmy of the A3243G mutation and variants in type 2 diabetes susceptibility genes were determined, and transcriptional activity, DNA...

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Identifiers

PMID: 15220216
DOI: 10.2337/diabetes.53.7.1894

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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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