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Results 1 - 3 of 3 for Autosomal recessive distal renal tubular acidosis
  1. ... Karet FE. Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. J Med ... G, Jeunemaitre X, Blanchard A. Genetic investigation of autosomal recessive ... acidosis: evidence for early sensorineural hearing loss associated with ...
  2. ... the correct part of the cell membrane. In autosomal recessive SLC4A1-associated distal renal tubular acidosis, both copies of the SLC4A1 gene are mutated, ...
  3. ... Karet FE. Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. J Med ...