Concepedia

Novel compound heterozygous ATP6V0A4 mutations in an infant with distal renal tubular acidosis

Takashi Saito, Daisuke Hayashi, Sawako Shibata, Mitsuto Jogamoto, Tomohiro Kamoda

European Journal of Pediatrics · 2010 · 17 citations · 8 references

DOI

Concepts

References

8

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

, , +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

, , +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

, , +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

, , +17

Pediatric Kidney Disease

Donald I. Moel · JAMA · 1993 · 220 citations

, , +16