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Article

Identification of seven novel nucleotide variants in the hepatocyte nuclear factor-1alpha (TCF1) promoter region in MODY patients.

Human mutation - 1 Jan 2000

Godart F, Bellanné-Chantelot C, Clauin S, Gragnoli C, Abderrahmani A, Blanché H, Boutin P, Chèvre J C, Froguel P, Bailleul B

Abstract excerpt

Maturity onset diabetes of the young (MODY) is a heterogeneous subtype of type II diabetes mellitus. To date, five MODY genes have been identified. Mutations in the hepatocyte nuclear factor-1alpha (HNF-1alpha) gene are associated with MODY3. In the present work, we implemented the HNF-1alpha promoter region in the screening of MODY-suspect patients and identified seven variants not detected in control subjects....

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Identifiers

PMID: 10649494
DOI: 10.1002/(SICI)1098-1004(200002)15:2<173::AID-HUMU6>3.0.CO;2-W

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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