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Primary distal renal tubular acidosis: novel findings in patients studied by next-generation sequencing

31 de mayo de 2017
Distal Renal Tubal Acidosis; Genetic analysis; Genes ATP6V1B1 ATP6V0A4 and SLC4A1; Mass sequencing.

This study evidences that NGS is labor and cost effective for the analysis of DRTA genes. Our results show for the first time SLC4A1 gene mutations in Spanish patients and disclose that compound heterozygosity at two different genes can be responsible for DRTA.