A novelde novosplice-site mutation in theCOL7A1gene in dominant dystrophic epidermolysis bullosa (DDEB): specific exon skipping could be a prognostic factor for DDEB pruriginosa
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2230.2009.03254.x/fullpdf
Reference9 articles.
1. Revised classification system for inherited epidermolysis bullosa. Report of the Second International Consensus Meeting on Diagnosis and Classification of Epidermolysis Bullosa;Fine;J Am Acad Dermatol,2000
2. Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (Col7a1);Järvikallio;Hum Mutat,1997
3. Deletions within COL7A1 exons distant from consensus splice sites alter splicing and produce shortened polypeptides in dominant dystrophic epidermolysis bullosa;Sakuntabhai;Am J Hum Genet,1998
4. Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa;Mellerio;J Invest Dermatol,1999
5. A novel splice site mutation in collagen type VII gene in a Chinese family with dominant dystrophic epidermolysis bullosa pruriginosa;Jiang;Acta Derm Venereol,2002
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