A novel pathogenic variant in the glucokinase gene found in two Japanese siblings with maturity-onset diabetes of the young 2.
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DOI: 10.1507/endocrj.ej22-0541
Abstract: Glucokinase is a glycolytic enzyme that catalyzes the phosphorylation of glucose to glucose-6-phospate in the first step of the glycolytic pathway. It also regulates the threshold for insulin secretion from pancreatic beta cells by catalyzing… read more here.
Keywords: diabetes young; maturity onset; onset diabetes; glucokinase gene ... See more keywords