Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the alpha-L-iduronidase gene

Hum Mol Genet. 1993 Aug;2(8):1311-2. doi: 10.1093/hmg/2.8.1311.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • DNA Mutational Analysis
  • DNA Primers
  • DNA, Single-Stranded / analysis
  • Exons
  • Female
  • Genes, Recessive
  • Histidine
  • Humans
  • Iduronidase / genetics*
  • Male
  • Molecular Sequence Data
  • Mucopolysaccharidosis I / enzymology*
  • Mucopolysaccharidosis I / genetics*
  • Pedigree
  • Point Mutation*
  • Polymerase Chain Reaction / methods
  • Proline
  • Restriction Mapping

Substances

  • DNA Primers
  • DNA, Single-Stranded
  • Histidine
  • Proline
  • Iduronidase