Gentamicin induces COL17A1 nonsense mutation readthrough in junctional epidermolysis bullosa

J Dermatol. 2020 Mar;47(3):e82-e83. doi: 10.1111/1346-8138.15230. Epub 2020 Jan 10.

Authors

Yue Li¹, Jinwen Shen¹, Jianying Liang¹, Luyao Zheng¹, Fuying Chen¹, Zhirong Yao¹, Ming Li^{1

2}

Affiliations

¹ Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
² Center for Rare Disease, Shanghai, China.

PMID: 31919892
DOI: 10.1111/1346-8138.15230

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Autoantigens / genetics*
Codon, Nonsense / drug effects*
Collagen Type XVII
Epidermolysis Bullosa, Junctional / genetics*
Gentamicins / pharmacology
Gentamicins / therapeutic use*
Humans
Infant
Male
Non-Fibrillar Collagens / genetics*
Protein Synthesis Inhibitors / pharmacology
Protein Synthesis Inhibitors / therapeutic use*

Substances

Autoantigens
Codon, Nonsense
Gentamicins
Non-Fibrillar Collagens
Protein Synthesis Inhibitors