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Article

Evidence for haploinsufficiency of the human HNF1alpha gene revealed by functional characterization of MODY3-associated mutations.

Biological chemistry - 1 Nov 2002

Thomas Heike, Badenberg Britta, Bulman Michael, Lemm Ira, Lausen Jörn, Kind Lucy, Roosen Simone, Ellard Sian, Hattersley Andrew T, Ryffel Gerhart U

Abstract excerpt

Hepatocyte nuclear factor (HNF)1alpha is a homeo-domain-containing transcription factor participating in the regulation of gene expression in liver, kidney, gut and pancreas of vertebrates. In humans mutations in the HNF1 gene are responsible for one form of maturity onset diabetes of the young (MODY3). To define the molecular mechanism underlying MODY3 we investigated the functional properties of seven...

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PMID: 12530534
DOI: 10.1515/BC.2002.190

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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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