Branch point and donor splice-site COL7A1 mutations in mild recessive dystrophic epidermolysis bullosa

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Bibliographic Details
Published in:	British journal of dermatology (1951) Vol. 161; no. 2; pp. 464 - 467
Main Authors:	Drera, B., Floriddia, G., Forzano, F., Barlati, S., Zambruno, G., Colombi, M., Castiglia, D.
Format:	Journal Article
Language:	English
Published:	Oxford, UK Blackwell Publishing Ltd 01-08-2009 Wiley-Blackwell
Subjects:	Adult Biological and medical sciences branch point site Bullous diseases of the skin COL7A1 Collagen Type VII - genetics Dermatology Epidermolysis Bullosa Dystrophica - genetics Epidermolysis Bullosa Dystrophica - pathology Gene Expression Humans Male Medical sciences Mutation Phenotype recessive dystrophic epidermolysis bullosa RNA Splice Sites - genetics Severity of Illness Index splicing mutation Bullous dermatosis Human Skin disease Donor Splicing Dermatology Mutation Genetic disease Dystrophic epidermolysis bullosa
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Bibliography:	ArticleID:BJD9114 istex:2AB2C5C3E601790AFA2D9B0578722DF669468914 ark:/67375/WNG-SMWF6W2P-K Conflicts of interest: none declared. ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	0007-0963 1365-2133
DOI:	10.1111/j.1365-2133.2009.09114.x