title: A novel mutation (S558X) causing choroideremia.
authors.affiliation: Laboratoire de Biochimie Génétique, Institut de Biologie, CNRS UPR-9008, France.
authors.forename: L
authors.initials: L
authors.lastname: Beaufrère
authors.forename: S
authors.initials: S
authors.lastname: Tuffery
authors.forename: C
authors.initials: C
authors.lastname: Hamel
authors.forename: B
authors.initials: B
authors.lastname: Arnaud
authors.forename: J
authors.initials: J
authors.lastname: Demaille
authors.forename: M
authors.initials: M
authors.lastname: Claustres
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D019883:Alkyl and Aryl Transferases; D002352:Carrier Proteins / Q000235:genetics; D015794:Choroideremia / Q000235:genetics*; D004247:DNA / Q000097:blood; D005190:Family; D006801:Humans; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D017368:Protein Prenylation; D014960:X Chromosome; D020691:rab GTP-Binding Proteins
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C081787:CHM protein, human; D002352:Carrier Proteins; D004247:DNA; D019883:Alkyl and Aryl Transferases; D020691:rab GTP-Binding Proteins