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Báo cáo khoa học: Functional analysis of disease-causing mutations in human UDP-galactose 4-epimerase
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UDP-galactose 4-epimerase (GALE, EC 5.1.3.2) catalyses the interconver-sion of UDP-glucose and UDP-galactose. Point mutations in this enzyme are associated with the genetic disease, type III galactosemia, which exists in two forms – a milder, or peripheral, form and a more severe, or general-ized, form.
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