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Báo cáo khoa học: Functional analysis of mutations in UDP-galactose-4epimerase (GALE) associated with galactosemia in Korean patients using mammalian GALE-null cells

Chia sẻ: Nguyen Thang | Ngày: | Loại File: PDF | Số trang:10

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Galactosemia is caused by defects in the galactose metabolic pathway, which consists of three enzymes, including UDP-galactose-4-epimerase (GALE). We previously reported nine mutations in Korean patients with epimerase-deficiency galactosemia. In order to determine the functional consequences of these mutations, we expressed wild-type and mutant GALE proteins in 293T cells.

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Nội dung Text: Báo cáo khoa học: Functional analysis of mutations in UDP-galactose-4epimerase (GALE) associated with galactosemia in Korean patients using mammalian GALE-null cells

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