Missense mutation in the choroideremia gene

Hum Mol Genet. 1994 Jun;3(6):1017. doi: 10.1093/hmg/3.6.1017.
No abstract available

Publication types

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

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Alkyl and Aryl Transferases*
  • Animals
  • Base Sequence
  • Carrier Proteins / genetics
  • Choroideremia / blood
  • Choroideremia / genetics*
  • Deoxyribonucleases, Type II Site-Specific / metabolism
  • Exons
  • Female
  • Genetic Carrier Screening
  • Humans
  • Male
  • Point Mutation*
  • Rats
  • Restriction Mapping
  • Sex Characteristics
  • Substrate Specificity
  • X Chromosome
  • rab GTP-Binding Proteins*

Substances

  • Adaptor Proteins, Signal Transducing
  • CHM protein, human
  • Carrier Proteins
  • Chm protein, rat
  • Alkyl and Aryl Transferases
  • endodeoxyribonuclease BsrI
  • Deoxyribonucleases, Type II Site-Specific
  • rab GTP-Binding Proteins