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Article

A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population.

Diabetes research and clinical practice - 1 Aug 2015

Fang Chen, Huang Jian, Huang Yun, Chen Linqi, Chen Xiuli, Hu Ji

Abstract excerpt

We reported a novel nonsense mutation, R54X of the hepatic nuclear factor 1α (HNF1α) gene in a Chinese family. The mutation was identified in a 47 years old woman and her 19 years old daughter within a five-family members tested. Both the two patients were sensitive to insulin and glibenclamide treatments.

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Identifiers

PMID: 26050565
DOI: 10.1016/j.diabres.2015.05.026

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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