Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations

J Med Genet. 2000 Sep;37(9):704-7. doi: 10.1136/jmg.37.9.704.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Genotype
  • Humans
  • Hydrolases / genetics*
  • Mucopolysaccharidosis III / enzymology*
  • Mucopolysaccharidosis III / genetics
  • Mucopolysaccharidosis III / pathology
  • Mutagenesis, Insertional
  • Mutation
  • Mutation, Missense
  • Polymorphism, Single-Stranded Conformational
  • Sequence Deletion

Substances

  • DNA
  • Hydrolases
  • N-sulfoglucosamine sulfohydrolase