Novel human pathological mutations. Gene symbol: CHM. Disease: choroideraemia.
Villaverde
Cristina
C
Fundación Jiménez Díaz, Genética, Madrid, Spain. cvillaverde@fjd.es
Trujillo-Tiebas
M J
MJ
Garcia-Hoyos
M
M
Narvaiza
R C
RC
Perez
N
N
Garcia-Sandoval
B
B
Ayuso
C
C
D048868:Adaptor Proteins, Signal Transducing; D015794:Choroideremia / Q000235:genetics*; D006801:Humans; D009154:Mutation
D048868:Adaptor Proteins, Signal Transducing; C081787:CHM protein, human