Identification of novel pathogenic mutations in ATP6V0A4 associated with distal renal tubular acidosis and analysis of wild-type expression in glomerular disease.
Distal renal tubular acidosis triggered by clozapine in a patient with a heterozygous ATP6V0A4 c.1029 + 5G > A variant: a case report and literature review.
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