Pretibial dystrophic epidermolysis bullosa: A recessively inherited COL7A1 splice site mutation affecting procollagen VII processing

British Journal of Dermatology

Volumn 141, Issue 5, 1999, Pages 833-839

  Betts, Christine M ^a   Posteraro, P ^b   Costa, A M ^a   Varotti, C ^a   Schubert, M ^c   Bruckner Tuderman, L ^c   Castiglia, D ^b  

^a UNIVERSITY OF BOLOGNA   (Italy)

^b LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

^c UNIVERSITY OF MÜNSTER   (Germany)

Author keywords

Anchoring fibrils; COL7A1 mutation; Epidermolysis bullosa dystrophica; Pretibial epidermolysis bullosa

Indexed keywords

COLLAGEN TYPE 7; GLYCINE; PROCOLLAGEN;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; DELETION MUTANT; DERMOEPIDERMAL JUNCTION; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EXON; FIBER; GENE DELETION; GENE MUTATION; HUMAN; IMMUNOFLUORESCENCE; IMMUNOHISTOCHEMISTRY; INTRON; MALE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN PROCESSING; RECESSIVE INHERITANCE;

ADULT; COLLAGEN; EPIDERMOLYSIS BULLOSA DYSTROPHICA; FLUORESCENT ANTIBODY TECHNIQUE, INDIRECT; GENES, RECESSIVE; HUMANS; MALE; MUTATION; PEDIGREE; PROCOLLAGEN; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SKIN;

EID: 0032713149     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2133.1999.03155.x     Document Type: Article

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