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Autosomal recessive distal renal tubular acidosis
- ... dRTA with deafness AR dRTA with hearing loss Autosomal recessive distal renal tubular acidosis with deafness Renal tubular acidosis type 1b Renal ... Registry: Renal tubular acidosis with progressive nerve deafness Autosomal recessive distal ... National Organization for Rare Disorders (NORD) RENAL TUBULAR ...
- ... of AE1 protein in the cell membrane. In autosomal recessive distal renal tubular acidosis, both copies of the SLC4A1 gene are mutated, ... N, Cordat E, Reithmeier RA. Molecular mechanisms of autosomal dominant and recessive distal renal tubular acidosis caused by SLC4A1 (AE1) mutations. J Mol Genet ...
- ... 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 ...
