Identification of a 4 bp deletion (1560del4) in po gene in a family with severe Charcot-Marie-Tooth disease

Hum Mutat. 1996;7(4):377-8. doi: 10.1002/humu.1380070403.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Charcot-Marie-Tooth Disease / genetics*
  • Chromosome Mapping
  • Electrophysiology
  • Exons
  • Humans
  • Myelin P0 Protein / genetics*
  • Neural Conduction
  • Peripheral Nervous System / physiopathology
  • Polymerase Chain Reaction
  • Sequence Deletion*

Substances

  • Myelin P0 Protein