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Autosomal recessive distal renal tubular acidosis
- ... 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 ...
- ... the correct part of the cell membrane. In autosomal recessive SLC4A1-associated distal renal tubular acidosis, both copies of the SLC4A1 gene are mutated, ...
- ... Karet FE. Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. J Med ...