title: A novel mutation in the COL7A1 gene results in a unique phenotype of epidermolysis bullosa pruriginosa.
authors.affiliation: Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, 1665 Kongjiang Road, Shanghai, 200092, China.
authors.forename: C
authors.initials: C
authors.lastname: Ni
authors.affiliation: Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, 1665 Kongjiang Road, Shanghai, 200092, China.
authors.forename: J
authors.initials: J
authors.lastname: Zhang
authors.affiliation: Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, 1665 Kongjiang Road, Shanghai, 200092, China.
authors.forename: H
authors.initials: H
authors.lastname: Zhang
authors.affiliation: Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, 1665 Kongjiang Road, Shanghai, 200092, China.
authors.forename: R-H
authors.initials: RH
authors.lastname: Cheng
authors.affiliation: Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, 1665 Kongjiang Road, Shanghai, 200092, China.
authors.forename: J-Y
authors.initials: JY
authors.lastname: Liang
authors.affiliation: Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, 1665 Kongjiang Road, Shanghai, 200092, China.
authors.forename: C-X
authors.initials: CX
authors.lastname: Li
authors.affiliation: Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, 1665 Kongjiang Road, Shanghai, 200092, China.
authors.forename: M
authors.initials: M
authors.lastname: Li
authors.affiliation: Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, 1665 Kongjiang Road, Shanghai, 200092, China.
authors.forename: Z-R
authors.initials: ZR
authors.lastname: Yao
mesh_terms: D000293:Adolescent; D024143:Collagen Type VII / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype
chemical_list: C569053:COL7A1 protein, human; D024143:Collagen Type VII; D004247:DNA