Associated Papers
Genetic profiling of epidermolysis bullosa in a large Brazilian cohort.
Ota VK et al.
Clinical and Experimental Dermatology, 2025
Ten years of DNA diagnostics of epidermolysis bullosa in the Czech Republic.
Kopečková L et al.
The British Journal of Dermatology, 2016
The largest family of the Americas with dominant dystrophic epidermolysis bullosa pruriginosa: a 18-year longitudinal genotype-phenotype study.
Fortuna G et al.
Journal of Dermatological Science, 2013
Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.
Almaani N et al.
Acta Dermato-venereologica, 2011
Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations.
Jerábková B et al.
Journal of Dermatological Science, 2010
New glycine substitution mutations in type VII collagen underlying epidermolysis bullosa pruriginosa but the phenotype is not explained by a common polymorphism in the matrix metalloproteinase-1 gene promoter.
Almaani N et al.
Acta Dermato-venereologica, 2009
Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.
Dang N et al.
Experimental Dermatology, 2008
Dilemmas in distinguishing between dominant and recessive forms of dystrophic epidermolysis bullosa.
Mallipeddi R et al.
The British Journal of Dermatology, 2003
Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis.
Whittock NV et al.
The Journal of Investigative Dermatology, 1999
An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred.
Yang CS et al.
Pediatric Dermatology, 0
Select a paper to view details