Novel de novo heterozygous frameshift mutation of the ADAR1 gene in heavy dyschromatosis symmetrica hereditaria.
Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, China.
Cheng-Rang
CR
Li
Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, China.
Hui
H
Li
Dermatology of China-Japan Friendship Hospital, Beijing.
Rui-Xing
RX
Yu
Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, China.
Zhi-Liang
ZL
Li
Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, China.
Qi
Q
Li
Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, China.
Juan-Qin
JQ
Gong
D000243:Adenosine Deaminase / Q000235:genetics*; D002648:Child; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D010859:Pigmentation Disorders / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D016601:RNA-Binding Proteins / Q000235:genetics*; D012867:Skin / Q000473:pathology
D016601:RNA-Binding Proteins; C000595356:ADAR protein, human; D000243:Adenosine Deaminase