A novel homozygous deletion in ATP6V0A4 causes distal renal tubular acidosis
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
Reference21 articles.
1. Pathophysiology, diagnosis and treatment of inherited distal renal tubular acidosis;Mohebbi;J Nephrol,2018
2. Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families;Escobar;Mol Genet Genomic Med,2016
3. Distal renal tubular acidosis in a Libyan patient: evidence for digenic inheritance;Nagara;Eur J Med Genet,2018
4. Novel compound heterozygous ATP6V0A4 mutations in an infant with distal renal tubular acidosis;Saito;Eur J Pediatr,2010
5. The distal renal tubular acidosis caused by ATP6V1B1 gene mutation: a case report;Xu;J Clin Pediatr,2017
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1. Molecular Aspects of Distal Kidney Tubular Acidosis in Children, Its Long-Term Outcome, and Relationship with Hyperammonemia;Turkish Archives of Pediatrics;2022-07-07
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