Associated Papers
Genetic profiling of epidermolysis bullosa in a large Brazilian cohort.
Ota VK et al.
Clinical and Experimental Dermatology, 2025
Mouse models for dominant dystrophic epidermolysis bullosa carrying common human point mutations recapitulate the human disease.
Smith BRC et al.
Disease Models & Mechanisms, 2021
A novel mutation of COL7A1 in a Chinese DEB-Pt family and review of the literature.
Jin L et al.
Journal of Cosmetic Dermatology, 2020
Splice site mutation in COL7A1 resulting in aberrant in-frame transcripts identified in a case of recessive dystrophic epidermolysis bullosa, pretibial.
Masunaga T et al.
The Journal of Dermatology, 2018
Localised Dominant Dystrophic Epidermolysis Bullosa with a Novel de Novo Mutation in COL7A1 Diagnosed by Next-generation Sequencing.
Nagai M et al.
Acta Dermato-venereologica, 2015
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
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
Dominant dystrophic epidermolysis bullosa caused by a novel G2037R mutation and by a known G2028R mutation in the type VII collagen gene (COL7A1).
Iwata T et al.
The Journal of Dermatology, 2006
[Dystrophic epidermolysis bullosa].
Gol'dshteĭn LM et al.
Vestnik Dermatologii I Venerologii, 1976
Novel glycine substitution G2037R of COL7A1 in a Chinese boy with pretibial epidermolysis bullosa treated with oral olopatadine hydrochloride and topical Vitamin E.
Chen J et al.
Indian Journal of Dermatology, Venereology and Leprology, 0
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