dc.contributor.author | Nagara, Majdi | en |
dc.contributor.author | Voskarides, Konstantinos | en |
dc.contributor.author | Elouej, S. | en |
dc.contributor.author | Zaravinos, Apostolos | en |
dc.contributor.author | Riahi, Zied | en |
dc.contributor.author | Papagregoriou, Gregory N. | en |
dc.contributor.author | Kefi Ben Atig, Rym | en |
dc.contributor.author | Boussetta, Khadija | en |
dc.contributor.author | Constantinou-Deltas, Constantinos D. | en |
dc.contributor.author | Abdelhak, S. | en |
dc.contributor.author | Tinsa, Faten | en |
dc.creator | Nagara, Majdi | en |
dc.creator | Voskarides, Konstantinos | en |
dc.creator | Elouej, S. | en |
dc.creator | Zaravinos, Apostolos | en |
dc.creator | Riahi, Zied | en |
dc.creator | Papagregoriou, Gregory N. | en |
dc.creator | Kefi Ben Atig, Rym | en |
dc.creator | Boussetta, Khadija | en |
dc.creator | Constantinou-Deltas, Constantinos D. | en |
dc.creator | Abdelhak, S. | en |
dc.creator | Tinsa, Faten | en |
dc.date.accessioned | 2019-11-04T12:52:23Z | |
dc.date.available | 2019-11-04T12:52:23Z | |
dc.date.issued | 2015 | |
dc.identifier.uri | http://gnosis.library.ucy.ac.cy/handle/7/53264 | |
dc.source | Journal of Genetics | en |
dc.source.uri | https://www.scopus.com/inward/record.uri?eid=2-s2.0-84925478117&partnerID=40&md5=30dae207eaf0fe236ff8bd7ef4d8a285 | |
dc.subject | child | en |
dc.subject | Male | en |
dc.subject | Humans | en |
dc.subject | adult | en |
dc.subject | genetics | en |
dc.subject | Mutation | en |
dc.subject | Tunisia | en |
dc.subject | consanguinity | en |
dc.subject | dna mutational analysis | en |
dc.subject | Novel mutation | en |
dc.subject | Vacuolar Proton-Translocating ATPases | en |
dc.subject | Distal renal tubular acidosis (dRTA) | en |
dc.subject | RNA Splice Sites | en |
dc.subject | acidosis, renal tubular | en |
dc.subject | ATP6V0A4 | en |
dc.subject | ATP6V0A4 protein, human | en |
dc.subject | Donor splice site | en |
dc.subject | High-Throughput Nucleotide Sequencing | en |
dc.subject | physiopathology | en |
dc.subject | Siblings | en |
dc.subject | Tunisian population | en |
dc.title | A novel splice-site mutation in ATP6V0A4 gene in two brothers with distal renal tubular acidosis from a consanguineous Tunisian family | en |
dc.type | info:eu-repo/semantics/article | |
dc.description.volume | 93 | |
dc.description.startingpage | 859 | |
dc.description.endingpage | 863 | |
dc.author.faculty | Σχολή Θετικών και Εφαρμοσμένων Επιστημών / Faculty of Pure and Applied Sciences | |
dc.author.department | Τμήμα Βιολογικών Επιστημών / Department of Biological Sciences | |
dc.type.uhtype | Article | en |
dc.description.notes | <p>Cited By :1</p> | en |
dc.source.abbreviation | J.Genet. | en |
dc.contributor.orcid | Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169] | |
dc.gnosis.orcid | 0000-0001-5549-9169 | |