Functional Characterization of a Novel Heterozygous  Mutation in the Glucokinase Gene That Causes MODY2 in Chinese Pedigrees

ConclusionOur study firstly identified a novel MODY2 mutation p.Ala259Thr in Chinese diabetes pedigrees. The kinetic and thermal stability analysis confirmed that this mutation caused hyperglycemia through severely damaging the enzyme activities and protein stability.
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research