Condition: Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness


rs1553419751 in ATP6V1B1;VAX2 gene and Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness PMID 28233610 2017 The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.

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 12414817 2002 Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.

rs121964880 in VAX2;ATP6V1B1 gene and Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness PMID 12414817 2002 Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.

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.