New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new NciI site the same as L444P

Hum Mol Genet. 1994 Jul;3(7):1183-4. doi: 10.1093/hmg/3.7.1183.
No abstract available

Publication types

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

MeSH terms

  • Alleles
  • Base Sequence
  • DNA Mutational Analysis
  • Deoxyribonucleases, Type II Site-Specific / metabolism
  • Exons / genetics*
  • Fatal Outcome
  • Female
  • Gaucher Disease / genetics*
  • Genes
  • Glucosylceramidase / genetics*
  • Humans
  • Infant, Newborn
  • Molecular Sequence Data
  • Point Mutation*

Substances

  • CCSGG-specific type II deoxyribonucleases
  • Deoxyribonucleases, Type II Site-Specific
  • Glucosylceramidase