Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations
Author:
Publisher
Elsevier BV
Subject
Dermatology,Molecular Biology,Biochemistry
Reference9 articles.
1. The classification of inherited epidermolysis bullosa (EB): report of the Third International Consensus Meeting on Diagnosis and Classification of EB;Fine;J Am Acad Dermatol,2008
2. A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa;Christiano;Nat Genet,1993
3. Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa;Dang;Exp Dermatol,2008
4. High frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa;Csikos;Br J Dermatol,2005
5. Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the localisata variant of recessive dystrophic epidermolysis bullosa;Gardella;Am J Hum Genet,1996
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