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A hepatocyte nuclear factor-4 alpha gene (HNF4A) P2 promoter haplotype linked with late-onset diabetes: studies of HNF4A variants in the Norwegian MODY registry.

Diabetes - 1 Jun 2006

Raeder Helge, Bjørkhaug Lise, Johansson Stefan, Mangseth Kjersti, Sagen Jørn V, Hunting Anne, Følling Ivar, Johansen Odd, Bjørgaas Marit, Paus Povel N, Søvik Oddmund, Molven Anders, Njølstad Pål R

Abstract excerpt

Variants in hepatocyte nuclear factor (HNF)-4alpha cause maturity-onset diabetes of the young, type 1 (MODY1) and may also be risk factors for type 2 diabetes. We sequenced the HNF4A gene of 95 MODY3-negative probands from the Norwegian MODY Registry. We found three novel coding variants in exon 8 of HNF4A: G326R, T339I, and W340X. In intron 7, we noted a single nucleotide polymorphism in the binding site of a...

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PMID: 16731861
DOI: 10.2337/db05-1677

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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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