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Table 1 Genotype and alpha-N-acetyl-D-glucosaminidase activity for MPS III patients

From: Polymorphic variants (p.Ser141Ser and p.Arg737Gly) at the NAGLU gene are really indicative of pseudodeficiency alleles?

  n p.Ser141Ser (c.423 T > C) p.Arg737Gly (c.2209C > G) alpha-N-acetyl-D-glucosaminidase activity in leukocytes (reference value: 10–34 nmol/17 h/mg protein)
MPS IIIB patients 12 C/C G/G 0,25 ± 0,17
Other MPS III patients 18 C/C G/G 14,5 ± 3,5
2 C/C C/G 19,8 ± 3,2
2 T/C C/G 16,5 ± 1,5
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