Gene: [17q21/NAGLU] N-acetylglucosaminidase, alpha- (Sanfilippo disease IIIB); mucopolysaccharidosis type IIIB (alpha-N-acetylglucosaminidase deficiency); SanFilippo syndrome B (alpha-N-acetylglucosaminidase deficiency);


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

KEY

lys, mtbd, neu

CLA

coding, basic

LOC

17 q21

MIM

MIM: 252920

EZN

ENZYME: 3.2.1.50

Смотрите также:

  • Gene: [17q253/SGSH] N-sulfoglucosamine sulfohydrolase (sulfamidase); sulphamidase, heparan sulfate sulfatase; mucopolysaccharidosis type IIIA (heparan sulfate sulfatase deficiency); SanFilippo syndrome A (heparan sulfate sulfatase deficienc
  • NAGLU Ген (ген N-ацетил-a-D-гликозаминидазы)