NanoLuc reporters identify COL4A5 nonsense mutations susceptible to drug-induced stop codon readthrough

Kohei Omachi, Washington University School of Medicine in St. Louis
Hirofumi Kai, Kumamoto University
Michel Roberge, University of British Columbia
Jeffrey H. Miner, Washington University School of Medicine in St. Louis

Abstract

Alport syndrome, a disease of kidney, ear, and eye, is caused by pathogenic variants in the