The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis

Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness

Fiona E. Karet, Karin E. Finberg, Raoul D. Nelson et al. · Nature Genetics · 1999 · 694 citations

Medicine, Genetics, Molecular Genetics +13

Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing

Annabel N. Smith, Jennifer Skaug, Keith A. Choate et al. · Nature Genetics · 2000 · 420 citations

Medicine, Genetics, Molecular Genetics +11

Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene.

Lesley J. Bruce, Diane L. Cope, Graham K. Jones et al. · Journal of Clinical Investigation · 1997 · 363 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Novel <i>ATP6V1B1</i> and <i>ATP6V0A4</i> mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss

Elizabeth H. Stover · Journal of Medical Genetics · 2002 · 317 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Mutations in the chloride-bicarbonate exchanger gene <i>AE1</i> cause autosomal dominant but not autosomal recessive distal renal tubular acidosis

Fiona E. Karet, Á. Z. Györy, Robert J. Unwin et al. · Proceedings of the National Academy of Sciences · 1998 · 274 citations · Full text

Medicine, Genetics, Molecular Genetics +15