Molecular defect of caprine N-acetylglucosamine-6-sulphatase deficiency. A single base substitution creates a stop codon in the 5'-region of the coding sequence

J Inherit Metab Dis. 1995;18(1):96. doi: 10.1007/BF00711390.
No abstract available

MeSH terms

  • Animals
  • Base Sequence
  • Blotting, Southern
  • Codon, Nonsense / genetics*
  • Goats
  • Molecular Sequence Data
  • Mucopolysaccharidosis III / enzymology
  • Mucopolysaccharidosis III / genetics
  • Polymerase Chain Reaction
  • Sulfatases / deficiency*
  • Sulfatases / genetics*
  • Transcription, Genetic

Substances

  • Codon, Nonsense
  • Sulfatases
  • N-acetylglucosamine-6-sulfatase

Associated data

  • GENBANK/U17694