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Article

Novel mutations and a mutational hotspot in the MODY3 gene.

Diabetes - 1 Jun 1997

Glucksmann M A, Lehto M, Tayber O, Scotti S, Berkemeier L, Pulido J C, Wu Y, Nir W J, Fang L, Markel P, Munnelly K D, Goranson J, Orho M, Young B M, Whitacre J L, McMenimen C, Wantman M, Tuomi T, Warram J, Forsblom C M, Carlsson M, Rosenzweig J, Kennedy G, Duyk G M, Thomas J D

Abstract excerpt

Maturity-onset diabetes of the young 3 (MODY3) is a type of NIDDM caused by mutations in the transcription factor hepatocyte nuclear factor-1alpha (HNF-1alpha) located on chromosome 12q. We have identified four novel HNF-1alpha missense mutations in MODY3 families. In four additional and unrelate...

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Identifiers

PMID: 9166684
DOI: 10.2337/diab.46.6.1081

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-9166684-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Novel mutations and a mutational hotspot in the MODY3 gene.PMID 9166684Read ↗

Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4.Semantic proximity Read ↗

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

Novel susceptibility gene for late-onset NIDDM is localized to human chromosome 12q.Semantic proximity Read ↗

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