Abstract
Recessive Dystrophic Epidermolysis Bullosa (RDEB) is disabling genodermatosis, caused by COL7A1 gene mutations. However, different mutation types may have different treatment approaches. Diseases caused by mutations leading to shifting reading frames and premature termination codon (PTC) appearance could be mitigated by drugs causing stop codon skipping, such as gentamicin. This application is questionable owing to its cytotoxicity and nonspecific coverage of engaged transcripts. Nonsense-mediated mRNA decay (NMD) is the mechanism for translation-dependent elimination of aberrant transcripts with PTC.
Full Text 
Sign-in/Register to access full text options
Sign-in/Register to access full text options 
Published version (
Free)
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
