Six novel ATP2C1 mutations identified in Chinese patients with Hailey-Hailey disease.
Tian
Hongqing
H
Shandong Provincial Institute of Dermatovenereology, 57 Jiyan Lu, Jinan 250022, Shandong Province, People's Republic of China.
Yan
Xiaoxiao
X
Liu
Hong
H
Yu
Yongxiang
Y
Zhang
Furen
F
D000328:Adult; D000368:Aged; D000252:Calcium-Transporting ATPases / Q000235:genetics*; D002681:China; D018389:Codon, Nonsense / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D016506:Pemphigus, Benign Familial / Q000208:ethnology* / Q000235:genetics*
D018389:Codon, Nonsense; C403624:ATP2C1 protein, human; D000252:Calcium-Transporting ATPases