Gene: [00.0/AGNAT] alpha-glucosaminide N-acetyltransferase; mucopolysaccharidosis type IIIC (alpha-glucosaminide N-acetyltransferase deficiency); SanFilippo syndrome C (alpha-glucosaminide N-acetyltransferase deficiency);
REF |
CLO,SEQ,GEN,LOC "Weber B &: Hum Mol Genet, 5, 771-777, 1996 CLO,SEQ,LOC,MUT "Zhao HG &: PNAS, 93, 6101-6105, 1996 CLO,SEQ,LOC,MUT "Zhao HG &: AJHG, 57, A185-185, 1995 CLO,SEQ,LOC,MUT "Zhao HG &: AJHG, 55, A252, 1994 |
KEY |
lys, mtbd, neu |
CLA |
coding, basic |
LOC |
RS |
MIM |
MIM: 252940 |
EZN |
ENZYME: 2.3.1.78? |
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