Molecular genetic analysis of MODY candidate genes in Japanese patients with non-obese juvenile onset diabetes mellitus.

doi:10.1515/jpem.2006.19.2.143

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Article

Molecular genetic analysis of MODY candidate genes in Japanese patients with non-obese juvenile onset diabetes mellitus.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Feb 2006

Kagami-Takasugi Masayo, Katsumata Noriyuki, Tanaka Toshiaki, Tajima Toshihiro, Fujieda Kenji

Abstract excerpt

We analyzed 84 Japanese patients with juvenile-onset (before 18 years of age) non-obese diabetes mellitus (DM) for mutations in the genes for HNF-1alpha, HNF-4alpha and HNF-1beta. In HNF-1alpha, previously reported mutations (R271W and R272C) and one novel sequence variant (at nucleotide -129/-130 insTTGGGG of the promoter region) were identified in three different patients. In vitro functional study of the new...

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PMID: 16562587
DOI: 10.1515/jpem.2006.19.2.143

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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.