Associated Papers
Identification of novel pathogenic mutations in ATP6V0A4 associated with distal renal tubular acidosis and analysis of wild-type expression in glomerular disease.
Jiang Y et al.
Renal Failure, 2025
Distal renal tubular acidosis triggered by clozapine in a patient with a heterozygous ATP6V0A4 c.1029 + 5G > A variant: a case report and literature review.
Kumagai T et al.
Bmc Nephrology, 2025
A case report and literature review of primary distal renal tubular acidosis resulting from a mutation in ATP6V0A4.
Chang C et al.
Frontiers in Pediatrics, 2025
Genetic Basis of Congenital Central Hypothyroidism in Children: Expanding the Mutational Spectrum of POU1F1 and ATP6V0A4.
Fu C et al.
International Journal of General Medicine, 2023
Genetic Diagnostic Yield and Novel Causal Genes of Congenital Heart Disease.
Tan M et al.
Frontiers in Genetics, 2022
35910219 (PubMed )
Supplement: DataSheet1.xlsx › Table_S7
Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis.
Guo W et al.
Clinical Genetics, 2021
Clinical and genetic analysis of distal renal tubular acidosis in three Chinese children.
Liu J et al.
Renal Failure, 2018
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