Stop mutations in exon 6 of the choroideremia gene, CHM, associated with preservation of the electroretinogram

Arch Ophthalmol. 2005 Aug;123(8):1146-9. doi: 10.1001/archopht.123.8.1146.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Alkyl and Aryl Transferases / genetics*
  • Child
  • Choroideremia / genetics*
  • Choroideremia / physiopathology*
  • Codon, Nonsense*
  • Electroretinography
  • Exons / genetics*
  • Humans
  • Male
  • Pedigree
  • Phenotype
  • Protein Prenylation / genetics
  • Retina / physiology*
  • rab GTP-Binding Proteins / genetics

Substances

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