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RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE

Known as: Autosomal recessive distal renal tubular acidosis, RTA, distal, autosomal recessive, RENAL TUBULAR ACIDOSIS, AUTOSOMAL RECESSIVE, WITH PRESERVED HEARING 
National Institutes of Health

Related topics

Related topics

3 relations
ATP6V0A4 geneATP6V0A4, IVS17, G-A, +1

Broader (1)

Renal tubular acidosis

Papers overview

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2018
2018
Molecular Diagnosis of Solute Carrier Family 4 Member 1 (SLC4A1) Mutation–Related Autosomal Recessive Distal Renal Tubular Acidosis
Background Two common mutations of the solute carrier family 4 member 1 (SLC4A1) gene, namely, Southeast Asian ovalocytosis (SAO… 
2010
2010
An expanded syndrome of dRTA with hearing loss, hyperoxaluria and beta2-microglobulinuria
We describe a 7-month-old male with atypical features of autosomal recessive distal renal tubular acidosis (dRTA) with… 
2003
2003
Anion exchanger 1 mutations associated with distal renal tubular acidosis in the Thai population
AbstractWe have previously demonstrated that compound heterozygous (SAO/G701D) and homozygous (G701D/G701D) mutations of the… 
1997
1997
Simulation of the Fluorescent Component in Giant EAS
One fast procedure (the method based on subshower structural stability with an environment of presimulated showers, built with… 
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