Gene symbol: CHM. Disease: Choroideraemia.
Villaverde
Cristina
C
FJD-CAPIO, Genetics, Av. Reyes Católicos, 2, 28040 Madrid, Spain. cvillaverde@fjd.es
Trujillo-Tiebas
M J
MJ
López-Martinez
M A
MA
Giménez-Pardo
A
A
Cantalapiedra
D
D
Vallespin
E
E
García-Hoyos
M
M
Ayuso
C
C
D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D019943:Amino Acid Substitution; D015794:Choroideremia / Q000208:ethnology / Q000235:genetics*; D003062:Codon / Q000235:genetics*; D018389:Codon, Nonsense; D005091:Exons; D006801:Humans; D008297:Male; D017354:Point Mutation; D013030:Spain
D048868:Adaptor Proteins, Signal Transducing; C081787:CHM protein, human; D003062:Codon; D018389:Codon, Nonsense