title: Novel missense mutations of ABCB6 in two chinese families with dyschromatosis universalis hereditaria.
authors.affiliation: McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and School of Basic Medicine Peking Union Medical College, Beijing 100005, China.
authors.forename: Chaoxia
authors.initials: C
authors.lastname: Lu
authors.affiliation: Department of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing 100073, China.
authors.forename: Jie
authors.initials: J
authors.lastname: Liu
authors.affiliation: McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and School of Basic Medicine Peking Union Medical College, Beijing 100005, China.
authors.forename: Fang
authors.initials: F
authors.lastname: Liu
authors.affiliation: McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and School of Basic Medicine Peking Union Medical College, Beijing 100005, China.
authors.forename: Yaping
authors.initials: Y
authors.lastname: Liu
authors.affiliation: Department of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing 100073, China. Electronic address: mdonglai@sohu.com.
authors.forename: Donglai
authors.initials: D
authors.lastname: Ma
authors.affiliation: McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and School of Basic Medicine Peking Union Medical College, Beijing 100005, China. Electronic address: xuezhang@pumc.edu.cn.
authors.forename: Xue
authors.initials: X
authors.lastname: Zhang
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000293:Adolescent; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D010859:Pigmentation Disorders / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D012873:Skin Diseases, Genetic / Q000235:genetics* / Q000473:pathology
chemical_list: C107991:ABCB6 protein, human; D018528:ATP-Binding Cassette Transporters
keywords: ABCB6; Dyschromatosis universalis hereditaria; Missense mutation