title: Three novel mutations of the proto-oncogene KIT cause human piebaldism.
authors.forename: P
authors.initials: P
authors.lastname: Syrris
authors.forename: N M
authors.initials: NM
authors.lastname: Malik
authors.forename: V A
authors.initials: VA
authors.lastname: Murday
authors.forename: M A
authors.initials: MA
authors.lastname: Patton
authors.forename: N D
authors.initials: ND
authors.lastname: Carter
authors.forename: H E
authors.initials: HE
authors.lastname: Hughes
authors.forename: K
authors.initials: K
authors.lastname: Metcalfe
mesh_terms: 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*
chemical_list: C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D004247:DNA; D019009:Proto-Oncogene Proteins c-kit