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Article

Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1.

The Journal of clinical endocrinology and metabolism - 1 Sept 2003

Schwitzgebel Valerie M, Mamin Aline, Brun Thierry, Ritz-Laser Beate, Zaiko Maia, Maret Alexandre, Jornayvaz Francois R, Theintz Gerald E, Michielin Olivier, Melloul Danielle, Philippe Jacques

Abstract excerpt

Neonatal diabetes mellitus can be transient or permanent. The severe form of permanent neonatal diabetes mellitus can be associated with pancreas agenesis. Normal pancreas development is controlled by a cascade of transcription factors, where insulin promoter factor 1 (IPF1) plays a crucial role. Here, we describe two novel mutations in the IPF1 gene leading to pancreas agenesis. Direct sequence analysis of exons...

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

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Identifiers

PMID: 12970316
DOI: 10.1210/jc.2003-030046

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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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