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A novel splice-site mutation in ATP6V0A4 gene in two brothers with distal renal tubular acidosis from a consanguineous Tunisian family

dc.contributor.authorNagara, Majdien
dc.contributor.authorVoskarides, Konstantinosen
dc.contributor.authorElouej, S.en
dc.contributor.authorZaravinos, Apostolosen
dc.contributor.authorRiahi, Zieden
dc.contributor.authorPapagregoriou, Gregory N.en
dc.contributor.authorKefi Ben Atig, Rymen
dc.contributor.authorBoussetta, Khadijaen
dc.contributor.authorConstantinou-Deltas, Constantinos D.en
dc.contributor.authorAbdelhak, S.en
dc.contributor.authorTinsa, Fatenen
dc.creatorNagara, Majdien
dc.creatorVoskarides, Konstantinosen
dc.creatorElouej, S.en
dc.creatorZaravinos, Apostolosen
dc.creatorRiahi, Zieden
dc.creatorPapagregoriou, Gregory N.en
dc.creatorKefi Ben Atig, Rymen
dc.creatorBoussetta, Khadijaen
dc.creatorConstantinou-Deltas, Constantinos D.en
dc.creatorAbdelhak, S.en
dc.creatorTinsa, Fatenen
dc.date.accessioned2019-11-04T12:52:23Z
dc.date.available2019-11-04T12:52:23Z
dc.date.issued2015
dc.identifier.urihttp://gnosis.library.ucy.ac.cy/handle/7/53264
dc.sourceJournal of Geneticsen
dc.source.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-84925478117&partnerID=40&md5=30dae207eaf0fe236ff8bd7ef4d8a285
dc.subjectchilden
dc.subjectMaleen
dc.subjectHumansen
dc.subjectadulten
dc.subjectgeneticsen
dc.subjectMutationen
dc.subjectTunisiaen
dc.subjectconsanguinityen
dc.subjectdna mutational analysisen
dc.subjectNovel mutationen
dc.subjectVacuolar Proton-Translocating ATPasesen
dc.subjectDistal renal tubular acidosis (dRTA)en
dc.subjectRNA Splice Sitesen
dc.subjectacidosis, renal tubularen
dc.subjectATP6V0A4en
dc.subjectATP6V0A4 protein, humanen
dc.subjectDonor splice siteen
dc.subjectHigh-Throughput Nucleotide Sequencingen
dc.subjectphysiopathologyen
dc.subjectSiblingsen
dc.subjectTunisian populationen
dc.titleA novel splice-site mutation in ATP6V0A4 gene in two brothers with distal renal tubular acidosis from a consanguineous Tunisian familyen
dc.typeinfo:eu-repo/semantics/article
dc.description.volume93
dc.description.startingpage859
dc.description.endingpage863
dc.author.facultyΣχολή Θετικών και Εφαρμοσμένων Επιστημών / Faculty of Pure and Applied Sciences
dc.author.departmentΤμήμα Βιολογικών Επιστημών / Department of Biological Sciences
dc.type.uhtypeArticleen
dc.description.notes<p>Cited By :1</p>en
dc.source.abbreviationJ.Genet.en
dc.contributor.orcidConstantinou-Deltas, Constantinos D. [0000-0001-5549-9169]
dc.gnosis.orcid0000-0001-5549-9169


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