Dystrophic epidermolysis bullosa inversa with COL7A1 mutations and absence of GDA-J/F3 protein

Pediatric Dermatology

Volumn 20, Issue 3, 2003, Pages 243-248

  Kahofer, Peter ^a   Bruckner Tuderman, Leena ^b   Metze, Dieter ^b   Lemmink, Henny ^c   Scheffer, Hans ^d   Smolle, Josef ^a  

^a UNIVERSITY OF GRAZ   (Austria)

^b UNIVERSITY OF MÜNSTER   (Germany)

^c UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ANCHORING FIBRIL ASSOCIATED PROTEIN; COLLAGEN TYPE 7; F3 PROTEIN; GDA J PROTEIN; GENOMIC DNA; PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; COL7A1 GENE; DNA SEQUENCE; DYSTROPHIC EPIDERMOLYSIS BULLOSA INVERSA; ELECTRON MICROSCOPY; EPIDERMOLYSIS BULLOSA; EPIDERMOLYSIS BULLOSA DYSTROPHICA; GENE; GENE MUTATION; GENODERMATOSIS; HUMAN; HUMAN TISSUE; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHOOL CHILD; SKIN DISEASE;

ADOLESCENT; BIOPSY, NEEDLE; CELL ADHESION MOLECULES, NEURONAL; CHILD; COLLAGEN TYPE VII; DNA MUTATIONAL ANALYSIS; EPIDERMOLYSIS BULLOSA DYSTROPHICA; FLUORESCENT ANTIBODY TECHNIQUE, INDIRECT; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MICROSCOPY, IMMUNOELECTRON; MUTATION; NETHERLANDS; PEDIGREE; PROGNOSIS; RISK ASSESSMENT;

EID: 0037633999     PISSN: 07368046     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1525-1470.2003.20312.x     Document Type: Article

References (24)

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