Deletion of the cytoplasmatic domain of BP180/collagen XVII causes a phenotype with predominant features of epidermolysis bullosa simplex

Journal of Investigative Dermatology

Volumn 118, Issue 1, 2002, Pages 185-192

  Huber, Marcel ^b   Floeth, Michaela ^a   Borradori, Luca ^c   Schäcke, Heike ^a   Rugg, Elizabeth L ^d   Lane, E Birgitte ^d   Frenk, Edgar ^b   Hohl, Daniel ^b   Bruckner Tuderman, Leena ^a  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^b LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^c UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^d UNIVERSITY OF DUNDEE   (United Kingdom)

Author keywords

Bullous pemphigoid; Genodermatoses; Mutation

Indexed keywords

ANTIBODY; COLLAGEN TYPE 17; KERATIN;

ARTICLE; BLISTER; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; CYTOPLASM; DISEASE COURSE; EPIDERMOLYSIS BULLOSA SIMPLEX; GENE DELETION; HEMIDESMOSOME; HUMAN; IMMUNODETECTION; INTRON; KERATINOCYTE; MALE; NONSENSE MUTATION; PATHOGENESIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN;

EID: 0036156170     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.0022-202x.2001.01617.x     Document Type: Article

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