Article
Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa.
International journal of molecular sciences - 12 Nov 2021
Vermeer Franciscus C, Bremer Jeroen, Sietsma Robert J, Sandilands Aileen, Hickerson Robyn P, Bolling Marieke C, Pasmooij Anna M G, Lemmink Henny H, Swertz Morris A, Knoers Nine V A M, van der Velde K Joeri, van den Akker Peter C
Abstract excerpt
Epidermolysis bullosa is a group of genetic skin conditions characterized by abnormal skin (and mucosal) fragility caused by pathogenic variants in various genes. The disease severity ranges from early childhood mortality in the most severe types to occasional acral blistering in the mildest types. The subtype and severity of EB is linked to the gene involved and the specific variants in that gene, which also...
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