title: Autosomal recessive epidermolysis bullosa simplex due to loss of BPAG1-e expression.
authors: Lu
authors: L
authors: Liu
authors: Patricia J
authors: PJ
authors: Dopping-Hepenstal
authors: Patricia A
authors: PA
authors: Lovell
authors: Magdalene
authors: M
authors: Michael
authors: Helen
authors: H
authors: Horn
authors: Kenneth
authors: K
authors: Fong
authors: Joey E
authors: JE
authors: Lai-Cheong
authors: Jemima E
authors: JE
authors: Mellerio
authors: Maddy
authors: M
authors: Parsons
authors: John A
authors: JA
authors: McGrath
mesh_terms: D000293:Adolescent; D000328:Adult; D002352:Carrier Proteins / Q000235:genetics*; D018389:Codon, Nonsense; D003598:Cytoskeletal Proteins / Q000235:genetics*; D000071821:Dystonin; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D012867:Skin / Q000648:ultrastructure
chemical_list: D002352:Carrier Proteins; D018389:Codon, Nonsense; D003598:Cytoskeletal Proteins; C486268:DST protein, human; D000071821:Dystonin; D009419:Nerve Tissue Proteins