A novel KIT frame-shift mutation in a large Chinese family with variably severe phenotypes of piebaldism.
Bin
B
Yang
Qin
Q
Yang
Hongbo
H
Yan
Ting
T
Sun
Ning
N
Wu
D000328:Adult; D044466:Asian People; D002681:China; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D016116:Piebaldism / Q000235:genetics*; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D012720:Severity of Illness Index
D019009:Proto-Oncogene Proteins c-kit