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Article

Characterization of a naturally occurring mutation (L107I) in the HNF1 alpha (MODY3) gene.

Diabetologia - 1 Dec 2002

Cervin C, Orho-Melander M, Ridderstråle M, Lehto M, Barg S, Groop L, Cilio C M

Abstract excerpt

AIMS/HYPOTHESIS: Maturity onset diabetes of the young type 3 (MODY3) is a monogenic form of diabetes mellitus caused by mutations in the gene encoding for hepatocyte nuclear factor 1 alpha, HNF1 alpha. In this study we have examined the in vivo and in vitro effects of a mutation (L107I) outside the DNA binding and dimerization domains in the N terminal part of the HNF1 alpha gene. METHODS: Beta-cell function of...

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Identifiers

PMID: 12488960
DOI: 10.1007/s00125-002-0977-4

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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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