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Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.
Stover, E H; Borthwick, K J; Bavalia, C; Eady, N; Fritz, D M; Rungroj, N; Giersch, A B S; Morton, C C; Axon, P R; Akil, I; Al-Sabban, E A; Baguley, D M; Bianca, S; Bakkaloglu, A; Bircan, Z; Chauveau, D; Clermont, M-J; Guala, A; Hulton, S A; Kroes, H; Li Volti, G; Mir, S; Mocan, H; Nayir, A; Ozen, S; Rodriguez Soriano, J; Sanjad, S A; Tasic, V; Taylor, C M; Topaloglu, R; Smith, A N; Karet, F E.
Affiliation
  • Stover EH; Department of Medical Genetics, University of Cambridge, UK.
J Med Genet ; 39(11): 796-803, 2002 Nov.
Article in En | MEDLINE | ID: mdl-12414817
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Acidosis, Renal Tubular / Proton-Translocating ATPases / Hearing Loss, Sensorineural Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Female / Humans / Male Language: En Journal: J Med Genet Year: 2002 Type: Article Affiliation country: United kingdom
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Acidosis, Renal Tubular / Proton-Translocating ATPases / Hearing Loss, Sensorineural Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Female / Humans / Male Language: En Journal: J Med Genet Year: 2002 Type: Article Affiliation country: United kingdom