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Article

The diabetic phenotype in HNF4A mutation carriers is moderated by the expression of HNF4A isoforms from the P1 promoter during fetal development.

Diabetes - 1 Jun 2008

Harries Lorna W, Locke Jonathan M, Shields Beverley, Hanley Neil A, Hanley Karen Piper, Steele Anna, Njølstad Pål R, Ellard Sian, Hattersley Andrew T

Abstract excerpt

OBJECTIVE: Mutations in the alternatively spliced HNF4A gene cause maturity-onset diabetes of the young (MODY). We characterized the spatial and developmental expression patterns of HNF4A transcripts in human tissues and investigated their role as potential moderators of the MODY phenotype. RESEARCH DESIGN AND METHODS: We measured the expression of HNF4A isoforms in human adult tissues and gestationally staged...

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PMID: 18356407
DOI: 10.2337/db07-1742

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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