Identification of novel pathogenic mutations in ATP6V0A4 associated with distal renal tubular acidosis and analysis of wild-type expression in glomerular disease.
Novel mutations in ATP6V0A4 are associated with atypical progressive sensorineural hearing loss in a Chinese patient with distal renal tubular acidosis.
Li X et al.
International Journal of Pediatric Otorhinolaryngology, 2012