Mutation in Scheie syndrome (MPS IS): a G-->A transition creates new splice site in intron 5 of one IDUA allele

Hum Mutat. 1993;2(2):141-4. doi: 10.1002/humu.1380020215.
No abstract available

Publication types

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

MeSH terms

  • Alleles
  • Base Sequence
  • DNA / genetics
  • DNA Mutational Analysis
  • Humans
  • Iduronidase / genetics
  • Introns
  • Molecular Sequence Data
  • Mucopolysaccharidosis I / enzymology
  • Mucopolysaccharidosis I / genetics*
  • Point Mutation*
  • RNA Splicing / genetics

Substances

  • DNA
  • Iduronidase