Haploinsufficiency of the Mouse Atp6v1b1 Gene Leads to a Mild Acid-Base Disturbance with Implications for Kidney Stone Disease
Background/Aims: Homozygous mutations or deletion of the ATP6V1B1 gene encoding for the B1 subunit of the vacuolar H+-ATPase leads to distal renal tubular acidosis in man and mice. In humans, heterozygous carriers of B1 mutations can develop incomplete dRTA with nephroclacinosis. Here, we investigat...
Main Authors: | , , , |
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Format: | Article |
Language: | English |
Published: |
Cell Physiol Biochem Press GmbH & Co KG
2018-05-01
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Series: | Cellular Physiology and Biochemistry |
Subjects: | |
Online Access: | https://www.karger.com/Article/FullText/490186 |