title: A novel missense mutation in COL7A1 in a Chinese pedigree with epidermolysis bullosa pruriginosa.
authors.forename: Yang
authors.initials: Y
authors.lastname: Wang
authors.forename: Junyu
authors.initials: J
authors.lastname: Zhao
authors.forename: Ping
authors.initials: P
authors.lastname: Tu
authors.forename: Wei
authors.initials: W
authors.lastname: Jiang
authors.forename: Xuejun
authors.initials: X
authors.lastname: Zhu
mesh_terms: D000328:Adult; D044466:Asian People / Q000208:ethnology / Q000235:genetics*; D024143:Collagen Type VII / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000737:chemistry; D016108:Epidermolysis Bullosa Dystrophica / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D005260:Female; D005998:Glycine / Q000032:analysis; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D012867:Skin / Q000378:metabolism / Q000473:pathology
chemical_list: D024143:Collagen Type VII; D004247:DNA; D005998:Glycine