Novel glycine substitution G2037R ofCOL7A1in a Chinese boy with pretibial epidermolysis bullosa treated with oral olopatadine hydrochloride and topical Vitamin E.
Department of Dermatology, The First Affiliated Hospital Siming Branch of Xiamen University, Xiamen, Fujian, China.
Jianshe
J
Chen
Department of Dermatology, Shenzhen Hospital, Southern Medical University, Shenzhen, Guangdong 518000, China.
Yanhua
Y
Liang
D000284:Administration, Oral; D000287:Administration, Topical; D019943:Amino Acid Substitution / Q000235:genetics; D000894:Anti-Inflammatory Agents, Non-Steroidal / Q000008:administration & dosage; D044466:Asian People / Q000235:genetics*; D002648:Child; D024143:Collagen Type VII / Q000737:chemistry / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D005998:Glycine / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D008297:Male; D000069605:Olopatadine Hydrochloride / Q000008:administration & dosage*; D017433:Protein Structure, Secondary; D016896:Treatment Outcome; D014810:Vitamin E / Q000008:administration & dosage*
D000894:Anti-Inflammatory Agents, Non-Steroidal; C569053:COL7A1 protein, human; D024143:Collagen Type VII; D014810:Vitamin E; D000069605:Olopatadine Hydrochloride; D005998:Glycine