Intravenous gentamicin therapy in children with severe recessive dystrophic epidermolysis bullosa patients with nonsense COL7A1 mutations
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ID: 318312
2026
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Abstract
Aminoglycoside-mediated readthrough offers a targeted strategy to restore type VII collagen in RDEB caused by COL7A1 nonsense mutations. Systemic gentamicin was safe and produced notable but reversible clinical improvement in paediatric patients.
| Reference Key |
openalex_W7165681796
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|---|---|
| Authors | Pablo Lopez Balboa, Maria L Bageta, S Alauddin, Gabriela Petrof, A Martinez |
| Journal | clinical and experimental dermatology |
| Year | 2026 |
| DOI |
10.1093/ced/llag263
|
| URL | |
| Keywords | Keywords not found |
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