Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB)

J Med Genet. 2002 Feb;39(2):E3. doi: 10.1136/jmg.39.2.e3.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acetylglucosaminidase / genetics
  • Adolescent
  • Animals
  • COS Cells
  • Cell Line
  • Child
  • Child, Preschool
  • Chlorocebus aethiops
  • Haplotypes / genetics
  • Humans
  • Mucopolysaccharidosis III / enzymology
  • Mucopolysaccharidosis III / genetics*
  • Mutation / genetics*

Substances

  • Acetylglucosaminidase