title: A splicing mutation in the COL7A1 gene causes autosomal dominant dystrophic epidermolysis bullosa pruriginosa.
authors: Center for Human Genome Research and College of Life Science and Technology, Huazhong University of Science and Technology, and Department of Dermatology, Union Hospital, Hubei, China.
authors: X
authors: X
authors: Ren
authors: J Y
authors: JY
authors: Liu
authors: L Y
authors: LY
authors: Zhai
authors: Q
authors: Q
authors: Yao
authors: X
authors: X
authors: Dai
authors: Z
authors: Z
authors: Cai
authors: P
authors: P
authors: Liu
authors: K
authors: K
authors: Sun
authors: C
authors: C
authors: Huang
authors: Q K
authors: QK
authors: Wang
authors: M
authors: M
authors: Liu
mesh_terms: D000293:Adolescent; D024143:Collagen Type VII / Q000235:genetics*; D004252:DNA Mutational Analysis; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D012326:RNA Splicing / Q000235:genetics*
chemical_list: D024143:Collagen Type VII