Novel homozygous and compound heterozygous COL17A1 mutations associated with junctional epidermolysis bullosa

Journal of Investigative Dermatology

Volumn 111, Issue 3, 1998, Pages 528-533

  Floeth, Michaela ^a   Fiedorowicz, Jan ^b   Schäcke, Heike ^a   Hammami Hauasli, Nadja ^a   Owaribe, Katsushi ^c   Trüeb, Ralph M ^d   Bruckner Tuderman, Leena ^a  

^a UNIVERSITY OF MÜNSTER   (Germany)

^b University School of Medicine   (Poland)

^c NAGOYA UNIVERSITY   (Japan)

^d UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

Basement membrane; Bullous pemphigoid antigen; Collagen; Hemidesmosome

Indexed keywords

COLLAGEN; MESSENGER RNA;

ADULT; AGED; ALOPECIA; ARTICLE; BLISTER; CASE REPORT; CHILD; CONTROLLED STUDY; EPIDERMOLYSIS BULLOSA; FEMALE; GENE DELETION; GENE MUTATION; HEMIDESMOSOME; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MISSENSE MUTATION; NAIL DYSTROPHY; PHENOTYPE; PRIORITY JOURNAL; SKIN ATROPHY; SKIN BIOPSY;

EID: 0031682312     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.1998.00325.x     Document Type: Article

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