Clinical Utility Gene Card For: Choroideremia

Eur J Hum Genet. 2014 Apr;22(4). doi: 10.1038/ejhg.2013.183. Epub 2013 Aug 21.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics
  • Choroideremia / diagnosis*
  • Choroideremia / genetics*
  • Genetic Testing
  • Genotype
  • Humans
  • Phenotype

Substances

  • Adaptor Proteins, Signal Transducing
  • CHM protein, human