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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