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Ã˸ÅȰ¼º, »ý¸®Àû Ȱ¼º, cDNA ¼¿, ¾Æ¹Ì³ë»ê ¼¿, À¯ÀüÀÚ ¼¿, ¿°»öü»óÀÇ À§Ä¡, °ü·ÃµÈ Áß¿ä ³í¹® µîµî.
glucosylceramidase (EC 3.2.1.45): Gaucher disease
phenylalanine hydroxylase : hyperphenylalaninemia
ornithine aminotransferase (gyrate atrophy)
caspase 8 (apoptosis-related cysteine protease)
coagulation factor IX (plasma thromboplastic component, Christmas disease, hemophilia B)
hypoxanthine phosphoribosyltransferase 1 (Lesch-Nyhan syndrome)
biotinidase: biotin ´ë»çÁúȯ
calreticulin: innate immunity °ü·Ã
galactose-1-phosphate uridylytransferase: galactosemia
glucose 6-phosphatase: Von Gierke's disease