title: A novel splice-site mutation in ATP6V0A4 gene in two brothers with distal renal tubular acidosis from a consanguineous Tunisian family.
authors.affiliation: LR11IPT05, Laboratoire de Génomique Biomédicale et Oncogénétique, Institut Pasteur de Tunis, 1002, Université de Tunis El Manar, 1068 Tunis, Tunisia. sonia.abdelhak@pasteur.rns.tn.
authors.forename: Majdi
authors.initials: M
authors.lastname: Nagara
authors.forename: Konstantinos
authors.initials: K
authors.lastname: Voskarides
authors.forename: Sahar
authors.initials: S
authors.lastname: Elouej
authors.forename: Apostolos
authors.initials: A
authors.lastname: Zaravinos
authors.forename: Zied
authors.initials: Z
authors.lastname: Riahi
authors.forename: Gregory
authors.initials: G
authors.lastname: Papagregoriou
authors.forename: Rym
authors.initials: R
authors.lastname: Kefi
authors.forename: Khadija
authors.initials: K
authors.lastname: Boussetta
authors.forename: Constantinos
authors.initials: C
authors.lastname: Deltas
authors.forename: Sonia
authors.initials: S
authors.lastname: Abdelhak
authors.forename: Faten
authors.initials: F
authors.lastname: Tinsa
mesh_terms: D000141:Acidosis, Renal Tubular / Q000235:genetics* / Q000503:physiopathology; D000328:Adult; D002648:Child; D003241:Consanguinity; D004252:DNA Mutational Analysis; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008297:Male; D009154:Mutation; D022821:RNA Splice Sites / Q000235:genetics*; D035781:Siblings; D014416:Tunisia; D025262:Vacuolar Proton-Translocating ATPases / Q000235:genetics*
chemical_list: D022821:RNA Splice Sites; C490181:ATP6V0A4 protein, human; D025262:Vacuolar Proton-Translocating ATPases