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Article

Analysis of a non-functional HNF-1alpha (TCF1) mutation in Japanese subjects with familial type 1 diabetes.

Human mutation - 1 Oct 2001

Yoshiuchi I, Yamagata K, Yoshimoto M, Zhu Q, Yang Q, Nammo T, Uenaka R, Kinoshita E, Hanafusa T, Miyagawa Ji, Matsuzawa Y

Abstract excerpt

Mutations in the transcription factor hepatocyte nuclear factor-1alpha (HNF-1alpha; gene symbol TCF1) cause maturity-onset diabetes of the young type 3 (MODY3), a form of diabetes mellitus characterized by autosomal dominant inheritance, early onset, and pancreatic beta-cell dysfunction. Recent genetic studies, however, also found mutations in patients diagnosed with idiopathic (non-autoimmune based) type 1...

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PMID: 11668618
DOI: 10.1002/humu.1196

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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