ATP6B1 gene mutations associated with distal renal tubular acidosis and deafness in a child

Author:

Hahn Hyewon,Kang Hee Gyung,Ha Il Soo,Cheong Hae Il,Choi Yong

Publisher

Elsevier BV

Subject

Nephrology

Reference39 articles.

1. Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness;Karet;Nat Genet,1999

2. Evidence for autosomal recessive inheritance of the syndrome of renal tubular acidosis with deafness;Nance;Birth Defects Orig Artic Ser,1971

3. Renal Tubular acidosis and nerve deafness;Dunger;Arch Dis Child,1980

4. Siblings with renal tubular acidosis and nerve deafness. The first family in Japan;Anai;Human Genet,1984

5. Long-term follow-up in distal renal tubular acidosis with sensorineural deafness;Peces;Pediatr Nephrol,2000

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3. Molecular Aspects of Distal Kidney Tubular Acidosis in Children, Its Long-Term Outcome, and Relationship with Hyperammonemia;Turkish Archives of Pediatrics;2022-07-07

4. Renal Tubular Acidosis;Pediatric Clinics of North America;2019-02

5. Acidosis and Urinary Calcium Excretion: Insights from Genetic Disorders;Journal of the American Society of Nephrology;2016-07-28

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