Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy syndrome

Hum Mutat. 1996;7(4):361-3. doi: 10.1002/(SICI)1098-1004(1996)7:4<361::AID-HUMU12>3.0.CO;2-0.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Child, Preschool
  • Codon, Terminator*
  • DNA Primers
  • Frameshift Mutation*
  • Heterozygote
  • Humans
  • Molecular Sequence Data
  • Mucopolysaccharidosis IV / genetics*
  • Open Reading Frames

Substances

  • Codon, Terminator
  • DNA Primers