Atp6v0a4 knockout mouse is a model of distal renal tubular acidosis with hearing loss, with additional extrarenal phenotype

Autosomal recessive distal renal tubular acidosis (dRTA) is a severe disorder of acid–base homeostasis, often accompanied by sensorineural deafness. We and others have previously shown that mutations in the tissue-restricted a4 and B1 subunits of the H(+)-ATPase underlie this syndrome. Here, we desc...

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Bibliographic Details
Main Authors: Norgett, Elizabeth E., Golder, Zoe J., Lorente-Cánovas, Beatriz, Ingham, Neil, Steel, Karen P., Karet Frankl, Fiona E.
Format: Artigo
Language:Inglês
Published: National Academy of Sciences 2012
Subjects:
Biological Sciences
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3427075/
https://ncbi.nlm.nih.gov/pubmed/22872862
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1204257109
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