Identification of a 5' splice site mutation in the PMP-22 gene in autosomal dominant Charcot-Marie-Tooth disease type 1

Hum Mol Genet. 1994 Mar;3(3):515-6. doi: 10.1093/hmg/3.3.515.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Charcot-Marie-Tooth Disease / genetics*
  • DNA
  • Humans
  • Molecular Sequence Data
  • Mutation*
  • Myelin Proteins / genetics*
  • RNA Splicing / genetics*

Substances

  • Myelin Proteins
  • PMP22 protein, human
  • DNA