A novel SLC4A1 variant in an autosomal dominant distal renal tubular acidosis family with a severe phenotype

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

Cloning and characterization of band 3, the human erythrocyte anion-exchange protein (AE1).

Samuel E. Lux, K M John, Ron R. Kopito et al. · Proceedings of the National Academy of Sciences · 1989 · 305 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +12

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