TY  - JOUR
AU  - Gómez, Juan
AU  - Gil-Peña, Helena
AU  - Santos, Fernando
AU  - Coto, Eliecer
AU  - Arango, Ana
AU  - Hernandez, Olaya
AU  - Rodríguez, Julián
AU  - Nadal, Inmaculada
AU  - Cantos, Virginia
AU  - Chocrón, Sara
AU  - Vergara, Inés
AU  - Madrid, Álvaro
AU  - Vazquez, Carlos
AU  - González, Luz E
AU  - Blanco, Fiona
PY  - 2015
DO  - 10.1038/pr.2015.243
UR  - http://hdl.handle.net/10668/9622
T2  - Pediatric research
AB  - 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...
LA  - en
KW  - Acid-Base Equilibrium
KW  - Acidosis
KW  - Acidosis, Renal Tubular
KW  - Child
KW  - Child, Preschool
KW  - Cost-Benefit Analysis
KW  - Exons
KW  - Female
KW  - Genetic Variation
KW  - Heterozygote
KW  - High-Throughput Nucleotide Sequencing
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Male
KW  - Mutation
TI  - Primary distal renal tubular acidosis: novel findings in patients studied by next-generation sequencing.
TY  - research article
VL  - 79
ER  -