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文献和实验Molecular Detection of Galactosemia Mutations by PCR-ELISA
Classic galactosemia is an autosomal recessive disorder caused by the deficiency of galactose 1-phosphate uridyltransferase, GALT (EC 2.7.7.12) (1). It presents with vomiting and diarrhea in neonates within a few days of milk intake
to a goat antimouse IgG, which catalyzes the substrate p-nitrophenyl phosphate, to form a colored product. Excess reagents are removed by washing, and enzyme activity can be measured with an ELISA plate reader at 415nm. The amount of colored product
- Human fibrillin 1 mutation db (Marfan syndrome) G6PD - Human G6PD deficiency resource Galt mutation - Human galactose-1-phosphate uridylyltransferase mutation db (Galactosemia) HEXAdb - Human Hexosaminidase A mutation db (Tay
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