Nonsense variant readthrough therapy for epidermolysis bullosa
Author:
Affiliation:
1. Department of Dermatology and Allergology and EB House Austria, University Hospital of the Paracelsus Medical University Salzburg , Salzburg , Austria
Publisher
Oxford University Press (OUP)
Link
https://academic.oup.com/bjd/advance-article-pdf/doi/10.1093/bjd/ljae137/57242673/ljae137.pdf
Reference8 articles.
1. Intravenous gentamicin therapy induces functional type VII collagen in patients with recessive dystrophic epidermolysis bullosa: an open-label clinical trial;Woodley;Br J Dermatol,2024
2. Emerging personalized opportunities for enhancing translational readthrough in rare genetic diseases and beyond;Wagner;Int J Mol Sci,2023
3. A meta-analysis of nonsense mutations causing human genetic disease;Mort;Hum Mutat,2008
4. When the message goes awry: disease-producing mutations that influence mRNA content and performance;Mendell;Cell,2001
5. Innovations in the treatment of dystrophic epidermolysis bullosa (DEB): current landscape and prospects;Hou;Ther Clin Risk Manag,2023
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