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Proceedings of the National Academy of Sciences of the United States of America|May 30, 1998
Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosisF E Karet, F J Gainza, A Z Györy, et al.Nature Genetics|January 23, 1999
Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafnessF E Karet, K E Finberg, R D Nelson, et al.Journal of Medical Genetics|November 5, 2002
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing lossE H Stover, K J Borthwick, C Bavalia, et al.Pageof 3