Pathogenicity of POFUT1 mutations in two Chinese families with Dowling-Degos disease.
Department of Dermatology, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Jiangsu, China. nylcr72@163.com.
C-R
CR
Li
Department of Dermatology, Cutaneous Biology Research Center, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Y S
YS
Brooks
Department of Dermatology, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Jiangsu, China.
W-X
WX
Jia
Department of Dermatology, The First Affiliated Hospital of Nanjing Medical University, Jiangsu, China.
D-G
DG
Wang
Department of Dermatology, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Jiangsu, China.
X-M
XM
Xiao
Department of Dermatology, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Jiangsu, China.
Q
Q
Li
Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
M
M
Li
Department of Dermatology, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Jiangsu, China.
Q-X
QX
Mao
Department of Dermatology, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Jiangsu, China. wangbx@ncstdlc.org.|Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Nanjing, Jiangsu, China. wangbx@ncstdlc.org.
B
B
Wang
D000328:Adult; D002681:China; D005260:Female; D005647:Fucosyltransferases / Q000235:genetics*; D006801:Humans; D017495:Hyperpigmentation / Q000235:genetics*; D009154:Mutation; D012873:Skin Diseases, Genetic / Q000235:genetics*; D017444:Skin Diseases, Papulosquamous / Q000235:genetics*
D005647:Fucosyltransferases; C105148:polypeptide fucosyltransferase