Three novel mutations of the proto-oncogene KIT cause human piebaldism.
Syrris
P
P
Malik
N M
NM
Murday
V A
VA
Patton
M A
MA
Carter
N D
ND
Hughes
H E
HE
Metcalfe
K
K
D019943:Amino Acid Substitution; D002648:Child; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D016116:Piebaldism / Q000235:genetics* / Q000473:pathology; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D000090063:Proto-Oncogene Mas; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*
C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D004247:DNA; D019009:Proto-Oncogene Proteins c-kit