Gene: [17q21/NAGLU] N-acetylglucosaminidase, alpha- (Sanfilippo disease IIIB); mucopolysaccharidosis type IIIB (alpha-N-acetylglucosaminidase deficiency); SanFilippo syndrome B (alpha-N-acetylglucosaminidase deficiency);
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REF |
CLO,SEQ,GEN,LOC "Weber B &: Hum Mol Genet, 5, 771-777, 1996 CLO,SEQ,STR,LOC,MUT "Zhao HG &: PNAS, 93, 6101-6105, 1996 CLO,SEQ,STR,LOC,MUT "Zhao HG &: AJHG, 57, A185-185, 1995 CLO,SEQ,STR,LOC,MUT "Zhao HG &: AJHG, 55, A252, 1994 |
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KEY |
lys, mtbd, neu |
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CLA |
coding, basic |
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LOC |
17 q21 |
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MIM |
MIM: 252920 |
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EZN |
ENZYME: 3.2.1.50 |
