A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2)

Neurology. 2004 Oct 12;63(7):1327-8. doi: 10.1212/01.wnl.0000140617.02312.80.
No abstract available

MeSH terms

  • Charcot-Marie-Tooth Disease / classification
  • Charcot-Marie-Tooth Disease / genetics*
  • Chromosome Mapping
  • Female
  • Humans
  • Introns
  • Italy
  • Male
  • Mutation
  • Protein Tyrosine Phosphatases / genetics*
  • Protein Tyrosine Phosphatases, Non-Receptor
  • RNA Splice Sites

Substances

  • RNA Splice Sites
  • Protein Tyrosine Phosphatases
  • Protein Tyrosine Phosphatases, Non-Receptor
  • SBF2 protein, human