title: Novel mutations of KIT gene in two Korean patients: variegated shades of phenotypes in tyrosine kinase 1 domain.
authors.affiliation: Department of Dermatology, Severance Hospital, Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul, South Korea.
authors.forename: Hemin
authors.initials: H
authors.lastname: Lee
authors.affiliation: Department of Dermatology, Severance Hospital, Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul, South Korea.
authors.forename: Sang Ho
authors.initials: SH
authors.lastname: Oh
authors.affiliation: Department of Clinical Genetics, Yonsei University College of Medicine, Seoul, South Korea.
authors.forename: Kyo-Yeon
authors.initials: KY
authors.lastname: Koo
authors.affiliation: Department of Dermatology, Yamagata University School of Medicine, Yamagata, Japan.
authors.forename: Tamio
authors.initials: T
authors.lastname: Suzuki
authors.affiliation: Department of Clinical Genetics, Yonsei University College of Medicine, Seoul, South Korea. Electronic address: jinsunglee@yuhs.ac.
authors.forename: Jin-Sung
authors.initials: JS
authors.lastname: Lee
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D002675:Child, Preschool; D003593:Cytoplasm / Q000378:metabolism; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010641:Phenotype; D016116:Piebaldism / Q000235:genetics; D016133:Polymerase Chain Reaction; D017434:Protein Structure, Tertiary; D011505:Protein-Tyrosine Kinases / Q000235:genetics*; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics* / Q000378:metabolism; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics* / Q000378:metabolism; D056910:Republic of Korea
chemical_list: D044102:Receptor, Melanocortin, Type 1; D011505:Protein-Tyrosine Kinases; D019009:Proto-Oncogene Proteins c-kit
keywords: KIT; MC1R; Piebaldism; Tyrosine kinase