Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).

doi:10.1136/jmg.35.11.910

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Article

Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).

Journal of medical genetics - 1 Nov 1998

Beesley C E, Young E P, Vellodi A, Winchester B G

Abstract excerpt

Sanfilippo syndrome type B or mucopolysaccharidosis type IIIB (MPS IIIB) is one of a group of lysosomal storage disorders that are characterised by the inability to breakdown heparan sulphate. In MPS IIIB, there is a deficiency in the enzyme alpha-N-acetylglucosaminidase (NAGLU) and early clinica...

Topics

Acetylglucosaminidase
DNA Mutational Analysis
Humans
Mucopolysaccharidosis III
Mutation

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