1 | ATP6V1B1, DRTAB1
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| 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.
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| Feldman M, Prikis M, Athanasiou Y, Elia A, Pierides A, Deltas CC.
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| Clin Genet 69(2):135-44. 2006
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2 | ATP6V0A4, ATP6V1B1
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| Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.
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| Stover EH, Borthwick KJ, Bavalia C, Eady N, Fritz DM, Rungroj N, Giersch AB, Morton CC, Axon PR, Akil I, Al-Sabban EA, Baguley DM, Bianca S, Bakkaloglu A, Bircan Z, Chauveau D, Clermont MJ, Guala A, Hulton SA, Kroes H, Li Volti G, Mir S, Mocan H, Nayir A, Ozen S, Rodriguez Soriano J, Sanjad SA, Tasic V, Taylor CM, Topaloglu R, Smith AN, Karet FE.
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| J Med Genet 39(11):796-803. 2002
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3 | ATP6V1B1, DRTAB1
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| Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness.
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| 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.
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| Nat Genet 21 : 84-90. 1999
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4 | ATP6AP1,ATP6V0A4,ATP6V0B,ATP6V0C,ATP6V0D1,ATP6V0E1,ATP6V1A,ATP6V1B1,ATP6V1B2,ATP6V1C1,ATP6V1D,ATP6V1E1,ATP6V1F,ATP6V1G1,ATP6V1G2,ATP6V1G3
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| Structure and properties of the vacuolar (H+)-ATPases.
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| Forgac M.
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| J Biol Chem 274(19):12951-4. Review. No abstract available. 1999
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5 | ATP6AP1,ATP6V0A4,ATP6V0B,ATP6V0D1,ATP6V0E1,ATP6V1A,ATP6V1B1,ATP6V1B2,ATP6V1C1,ATP6V1D,ATP6V1E1,ATP6V1F,ATP6V1G1,ATP6V1G2,ATP6V1G3
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| Vacuolar and plasma membrane proton-adenosinetriphosphatases.
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| Nelson N, Harvey WR.
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| Physiol Rev 79(2):361-85. Review. 1999
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6 | ATP6AP1,ATP6V0A4,ATP6V0B,ATP6V0C,ATP6V0D1,ATP6V0E1,ATP6V1A,ATP6V1B1,ATP6V1B2,ATP6V1C1,ATP6V1D,ATP6V1D,ATP6V1E1,ATP6V1F,ATP6V1G1,ATP6V1G2,ATP6V1G3
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| Structure, function and regulation of the vacuolar (H+)-ATPase.
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| Stevens TH, Forgac M.
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| Annu Rev Cell Dev Biol 13:779-808. Review. 1997
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7 | ATP6AP1,ATP6V0A4,ATP6V0B,ATP6V0C,ATP6V0D1,ATP6V0E1,ATP6V1A,ATP6V1B1,ATP6V1B2,ATP6V1C1,ATP6V1D,ATP6V1E1,ATP6V1F,ATP6V1G1,ATP6V1G2,ATP6V1G3
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| The vacuolar H+-ATPase: a universal proton pump of eukaryotes.
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| Finbow ME, Harrison MA.
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| Biochem J 324 ( Pt 3):697-712. Review. 1997
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8 | ATP6V1B1
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| A gene map of the human genome.
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| Schuler GD, Boguski MS, Stewart EA, Stein LD, Gyapay G, Rice K, White RE, Rodriguez-Tome P, Aggarwal A, Bajorek E, Bentolila S, Birren BB, Butler A, Castle AB, Chiannilkulchai N, Chu A, Clee C, Cowles S, Day PJ, Dibling T, Drouot N, Dunham I, Duprat S, East C, Hudson TJ, et al.
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| Science 274(5287):540-6. Review. 1996
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