Chromosomes 14 and 21 as possible candidates for mapping the gene for Sanfilippo disease type IIIC

J Med Genet. 1992 Jul;29(7):514.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Acetyltransferases / deficiency*
  • Acetyltransferases / metabolism
  • Child
  • Chromosome Mapping
  • Chromosomes, Human, Pair 14*
  • Chromosomes, Human, Pair 21*
  • Female
  • Humans
  • Mucopolysaccharidosis III / genetics*
  • Pedigree
  • Translocation, Genetic / genetics*

Substances

  • Acetyltransferases
  • glucosamine acetyltransferase