Associated Papers
Combinatorial Omics Analysis Reveals Perturbed Lysosomal Homeostasis in Collagen VII-deficient Keratinocytes.
Thriene K et al.
Molecular & Cellular Proteomics : Mcp, 2018
Branch point and donor splice-site COL7A1 mutations in mild recessive dystrophic epidermolysis bullosa.
Drera B et al.
The British Journal of Dermatology, 2009
Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.
Dang N et al.
Experimental Dermatology, 2008
Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa.
Kern JS et al.
The Journal of Investigative Dermatology, 2006
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