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Mutations in the hepatocyte nuclear factor-1alpha gene are a common cause of maturity-onset diabetes of the young in the U.K.

Diabetes - 1 Apr 1997

Frayling T M, Bulamn M P, Ellard S, Appleton M, Dronsfield M J, Mackie A D, Baird J D, Kaisaki P J, Yamagata K, Bell G I, Bain S C, Hattersley A T

Abstract excerpt

Mutations in the hepatocyte nuclear factor-1alpha (HNF1alpha) gene have recently been shown to cause maturity-onset diabetes of the young (MODY). We have examined 15 U.K. MODY families for mutations in the coding region of the HNF-1alpha gene. Eight different mutations, three frameshift (P291fsinsC, P379fsdelCT, and A443fsdelCA) and five missense mutations (P129T, R131W, R159W, P519L, and T620I), were identified...

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Identifiers

PMID: 9075818
DOI: 10.2337/diab.46.4.720

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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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