A novel mutation (S558X) causing choroideremia

Hum Mutat. 1996;8(4):395. doi: 10.1002/humu.1380080405.
No abstract available

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Alkyl and Aryl Transferases*
  • Carrier Proteins / genetics
  • Choroideremia / genetics*
  • DNA / blood
  • Family
  • Humans
  • Point Mutation*
  • Polymerase Chain Reaction
  • Protein Prenylation
  • X Chromosome*
  • rab GTP-Binding Proteins*

Substances

  • Adaptor Proteins, Signal Transducing
  • CHM protein, human
  • Carrier Proteins
  • DNA
  • Alkyl and Aryl Transferases
  • rab GTP-Binding Proteins