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Article

Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4alpha mutations in a large European collection.

Diabetologia - 1 May 2005

Pearson E R, Pruhova S, Tack C J, Johansen A, Castleden H A J, Lumb P J, Wierzbicki A S, Clark P M, Lebl J, Pedersen O, Ellard S, Hansen T, Hattersley A T

Abstract excerpt

AIMS/HYPOTHESIS: Heterozygous mutations in the gene of the transcription factor hepatocyte nuclear factor 4alpha (HNF-4alpha) are considered a rare cause of MODY with only 14 mutations reported to date. The description of the phenotype is limited to single families. We investigated the genetics and phenotype of HNF-4alpha mutations in a large European Caucasian collection. METHODS: HNF-4alpha was sequenced in 48...

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PMID: 15830177
DOI: 10.1007/s00125-005-1738-y

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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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