Article
Primary distal renal tubular acidosis: novel findings in patients studied by next-generation sequencing.
Pediatric research - 1 Mar 2016
Gómez Juan, Gil-Peña Helena, Santos Fernando, Coto Eliecer, Arango Ana, Hernandez Olaya, Rodríguez Julián, Nadal Inmaculada, Cantos Virginia, Chocrón Sara, Vergara Inés, Madrid Álvaro, Vazquez Carlos, González Luz E, Blanco Fiona
Abstract excerpt
BACKGROUND: Primary distal renal tubular acidosis (DRTA) is a rare disease caused by loss-of-function mutations in at least three genes (ATP6V0A4, ATP6V1B1, and SLC4A1) involved in urinary distal acidification. The next-generation sequencing (NGS) technique facilitates the search for mutations in DRTA patients and helps to characterize the genetic and clinical spectrum of the disease. METHODS: Ten DRTA patients...
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