| 1 | ATP6V1B1, DRTAB1 |
| Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene. | |
| Feldman M, Prikis M, Athanasiou Y, Elia A, Pierides A, Deltas CC. | |
| Clin Genet 69(2):135-44. 2006 | |
| 2 | ATP6V1B1, DRTAB1 |
| Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. | |
| Karet FE, Finberg KE, Nelson RD, Nayir A, Mocan H, Sanjad SA, Rodriguez-Soriano J, Santos F, Cremers CW, Di Pietro A, Hoffbrand BI, Winiarski J, Bakkaloglu A, Ozen S, Dusunsel R, Goodyer P, Hulton SA, Wu DK, Skvorak AB, Morton CC, Cunningham MJ, Jha V, Lifton RP. | |
| Nat Genet 21 : 84-90. 1999 | |
| 3 | DRTAB1 |
| Human endomembrane H+ pump strongly resembles the ATP-synthetase of Archaebacteria. | |
| Sudhof TC, et al. | |
| Proc Natl Acad Sci U S A 86 : 6067-6071. 1989 | |