Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Structural and functional understanding of disease-associated mutations in V-ATPase subunit a1 and other isoforms.
Indrawinata K et al.
Frontiers in Molecular Neuroscience, 2023
Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis.
Guo W et al.
Clinical Genetics, 2021
Hypokalemic Distal Renal Tubular Acidosis.
Vallés PG et al.
Advances in Chronic Kidney Disease, 2018
Molecular mechanisms of cutis laxa- and distal renal tubular acidosis-causing mutations in V-ATPase a subunits, ATP6V0A2 and ATP6V0A4.
Esmail S et al.
The Journal of Biological Chemistry, 2018
Improving outcomes for patients with distal renal tubular acidosis: recent advances and challenges ahead.
Watanabe T
Pediatric Health, Medicine and Therapeutics, 2018
Val2Ala mutation in the Atp6v0a4 gene causes early-onset sensorineural hearing loss in children with recessive distal renal tubular acidosis: a case report.
Kose E et al.
Renal Failure, 2014
Genetic causes and mechanisms of distal renal tubular acidosis.
Batlle D et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2012
Human H+ATPase a4 subunit mutations causing renal tubular acidosis reveal a role for interaction with phosphofructokinase-1.
Su Y et al.
American Journal of Physiology. Renal Physiology, 2008
Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.
Smith AN et al.
Nature Genetics, 2000
Development and Diseases of the Collecting Duct System.
Chen L et al.
Results and Problems in Cell Differentiation, 0
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