A novel mutation (S558X) causing choroideremia.
Beaufrère
L
L
Laboratoire de Biochimie Génétique, Institut de Biologie, CNRS UPR-9008, France.
Tuffery
S
S
Hamel
C
C
Arnaud
B
B
Demaille
J
J
Claustres
M
M
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
D048868:Adaptor Proteins, Signal Transducing; C081787:CHM protein, human; D002352:Carrier Proteins; D004247:DNA; D019883:Alkyl and Aryl Transferases; D020691:rab GTP-Binding Proteins