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Article

PAX4 gene variations predispose to ketosis-prone diabetes.

Human molecular genetics - 15 Dec 2004

Mauvais-Jarvis Franck, Smith Stuart B, Le May Cédric, Leal Suzanne M, Gautier Jean-François, Molokhia Mariam, Riveline Jean-Pierre, Rajan Arun S, Kevorkian Jean-Philippe, Zhang Sumei, Vexiau Patrick, German Michael S, Vaisse Christian

Abstract excerpt

Ketosis-prone diabetes (KPD) is a rare form of type 2 diabetes, mostly observed in subjects of west African origin (west Africans and African-Americans), characterized by fulminant and phasic insulin dependence, but lacking markers of autoimmunity observed in type 1 diabetes. PAX4 is a transcription factor essential for the development of insulin-producing pancreatic beta-cells. Recently, a missense mutation...

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Source

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Identifiers

PMID: 15509590
DOI: 10.1093/hmg/ddh341
PMCID: PMC6145178

Genes

PAX4

Provenance

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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