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Article

A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5).

Internal medicine (Tokyo, Japan) - 15 Jul 2018

Kato Tomoko, Tanaka Daisuke, Muro Seiji, Jambaljav Byambatseren, Mori Eisaku, Yonemitsu Shin, Oki Shogo, Inagaki Nobuya

Abstract excerpt

Maturity-onset diabetes of the young (MODY) is an autosomal dominant form of early onset diabetes. The hepatocyte nuclear factor-1-beta (HNF1B) gene is responsible for MODY type 5 (MODY5) with distinctive clinical features, including pancreatic atrophy and renal disease. We herein report a Japanese case of young-onset diabetes with typical phenotypes of MODY5 and a novel heterozygous missense mutation (p.L145Q)...

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Identifiers

PMID: 29491316
DOI: 10.2169/internalmedicine.9692-17
PMCID: PMC6096008

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Source receipt: pubmed, retrieved 7 Sept 2026.

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A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5).PMID 29491316Read ↗

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Expanded Clinical Spectrum in Hepatocyte Nuclear Factor 1B-Maturity-Onset Diabetes of the YoungSemantic proximity Read ↗

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