title: New mutations in the PLEC gene in a Chinese patient with epidermolysis bullosa simplex with muscular dystrophy.
authors.affiliation: Department of Dermatology, Peking University First Hospital, 8 Xishiku street, 100034, Beijing, China.
authors.forename: Q
authors.initials: Q
authors.lastname: Chen
authors.forename: Z M
authors.initials: ZM
authors.lastname: Lin
authors.forename: H J
authors.initials: HJ
authors.lastname: Wang
authors.forename: J
authors.initials: J
authors.lastname: Zhang
authors.forename: J H
authors.initials: JH
authors.lastname: Yin
authors.forename: Y
authors.initials: Y
authors.lastname: Yang
mesh_terms: D000293:Adolescent; D018389:Codon, Nonsense; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D051190:Plectin / Q000235:genetics*; D012600:Scoliosis / Q000150:complications
chemical_list: D018389:Codon, Nonsense; C495332:PLEC protein, human; D051190:Plectin