Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing-Reference-Cited by-同舟云学术

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

Published:2000-09 Issue:1 Volume:26 Page:71-75
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Smith Annabel N.,Skaug Jennifer,Choate Keith A.,Nayir Ahmet,Bakkaloglu Aysin,Ozen Seza,Hulton Sally A.,Sanjad Sami A.,Al-Sabban Essam A.,Lifton Richard P.,Scherer Stephen W.,Karet Fiona E.

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng0900_71.pdf

Reference21 articles.

1. Gluck, S.L. et al. Physiology and biochemistry of the kidney vacuolar H+-ATPase. Annu. Rev. Physiol. 58, 427–445 (1996).

2. Bastani. B. & Gluck, S.L. New insights into the pathogenesis of distal renal tubular acidosis. Miner. Electrolyte Metab. 22, 396–409 (1996).

3. Karet, F.E. et al. Mutations in the gene encoding the B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. Nature Genet. 21, 84–90 (1999).

4. Karet, F.E. et al. Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33–34. Am. J. Hum. Genet. 65, 1656–1665 (1999).

5. Brody, L.C. et al. Construction of a transcription map surrounding the BRCA1 locus of human chromosome 17. Genomics 25, 238–247 (1995).

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