Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene

Human Molecular Genetics

Volumn 6, Issue 7, 1997, Pages 1125-1135

  Winberg, Jan Olof ^a   Hammami Hauasli, Nadja ^b   Nilssen, Øivind ^c   Anton Lamprecht, Ingrun ^d   Naylor, Susan L ^e   Kerbacher, Karen ^e   Zimmermann, Mirjam ^f   Krajci, Peter ^g   Gedde Dahl Jr , Tobias ^g   Bruckner Tuderman, Leena ^b  

^a UNIVERSITY OF TROMSØ   (Norway)

^b UNIVERSITY OF MÜNSTER   (Germany)

^c UNIVERSITY HOSPITAL OF NORTH NORWAY   (Norway)

^d UNIVERSITY OF HEIDELBERG   (Germany)

^e UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

^f UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^g UNIVERSITY OF OSLO   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 7; PROCOLLAGEN;

AMINO ACID SUBSTITUTION; ARTICLE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CHROMOSOME 3P; CONTROLLED STUDY; DISEASE SEVERITY; DOMINANT GENE; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EXON; FEMALE; GENE DELETION; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN PROCESSING; RECESSIVE GENE; RNA SPLICING;

EID: 8544222766     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.7.1125     Document Type: Article

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