title: A novel glycine substitution mutation in the COL7A1 gene in two Scottish families with dominant dystrophic epidermolysis bullosa presenting with milia on the hands and feet.
authors: Dermatology Department, Royal Hospital for Children, 1345 Govan Road, Govan, Glasgow, G51 4TF, UK.
authors: D M
authors: DM
authors: Caruana
authors: Dermatology Department, Lanarkshire Centre for Dermatology, Airdrie, UK.
authors: G
authors: G
authors: Dawn
authors: Dermatology Department, Royal Hospital for Children, 1345 Govan Road, Govan, Glasgow, G51 4TF, UK.
authors: C
authors: C
authors: Jury
mesh_terms: D019943:Amino Acid Substitution; D024143:Collagen Type VII / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics*; D005260:Female; D005385:Fingers; D005533:Foot Dermatoses / Q000235:genetics*; D006229:Hand Dermatoses / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D014034:Toes
chemical_list: C569053:COL7A1 protein, human; D024143:Collagen Type VII