PMID 12579397 2003 Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis.
PMID 9916796 1999 Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness.
PMID 28233610 2017 The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.
PMID 18798332 2008 Extensive founder effect for distal renal tubular acidosis (dRTA) with sensorineural deafness in an isolated South American population.