학술논문
Topical gentamicin ointment induces LAMB3 nonsense mutation readthrough and improves corneal erosions in a patient with junctional epidermolysis bullosa.
Document Type
Article
Source
Subject
*NONSENSE mutation
*GENTAMICIN
*EPIDERMOLYSIS bullosa
*EROSION
*
*
*
Language
ISSN
1442-6404
Abstract
In summary, our study demonstrates that gentamicin-induced readthrough of a nonsense mutation restored laminin-332 expression in conjunctival cells and improved the ocular surface symptoms of a JEB patient. Gentamicin induces LAMB3 nonsense mutation readthrough and restores functional laminin 332 in junctional epidermolysis bullosa. [Extracted from the article]