{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T04:14:57Z","timestamp":1775016897850,"version":"3.50.1"},"reference-count":11,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,7,9]],"date-time":"2015-07-09T00:00:00Z","timestamp":1436400000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"name":"Cooperation R\u00e9gion Rh\u00f4ne-Alpes (CMIRA)","award":["1200618801"],"award-info":[{"award-number":["1200618801"]}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Meta Gene"],"published-print":{"date-parts":[[2015,9]]},"DOI":"10.1016\/j.mgene.2015.07.003","type":"journal-article","created":{"date-parts":[[2015,7,25]],"date-time":"2015-07-25T04:15:56Z","timestamp":1437797756000},"page":"144-149","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":11,"special_numbering":"C","title":["Genetic basis of cystinosis in Tunisian patients: Identification of novel mutation in CTNS gene"],"prefix":"10.1016","volume":"5","author":[{"given":"Latifa","family":"Chkioua","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Souhir","family":"Khedhiri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oussama","family":"Grissa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chaker","family":"Aloui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hadhami Ben","family":"Turkia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Salima","family":"Ferchichi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdelhedi","family":"Miled","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roseline","family":"Froissart","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cecile","family":"Acquaviva","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandrine","family":"Laradi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.mgene.2015.07.003_bb0005","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1006\/mgme.1998.2790","article-title":"Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS)","volume":"66","author":"Anikster","year":"1999","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.mgene.2015.07.003_bb0010","doi-asserted-by":"crossref","first-page":"2507","DOI":"10.1093\/hmg\/8.13.2507","article-title":"Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin","volume":"8","author":"Attard","year":"1999","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.mgene.2015.07.003_bb0015","doi-asserted-by":"crossref","first-page":"13314","DOI":"10.1074\/jbc.M010562200","article-title":"The targeting of cystinosin to the lysosomal membrane requires a tyrosine-based signal and a novel sorting motif","volume":"276","author":"Cherqui","year":"2001","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.mgene.2015.07.003_bb0020","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1056\/NEJMra020552","article-title":"Cystinosis","volume":"347","author":"Gahl","year":"2002","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.mgene.2015.07.003_bb0025","doi-asserted-by":"crossref","first-page":"4442","DOI":"10.1073\/pnas.79.14.4442","article-title":"Cystine accumulation and loss in normal, heterozygous, and cystinotic fibroblasts","volume":"79","author":"Jonas","year":"1982","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.mgene.2015.07.003_bb0030","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1002\/humu.9063","article-title":"Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis","volume":"20","author":"Kiehntopf","year":"2002","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.mgene.2015.07.003_bb0035","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1038\/ng0695-246","article-title":"Linkage of the gene for cystinosis to markers on the short arm of chromosome 17. The Cystinosis Collaborative Research Group","volume":"10","author":"McDowell","year":"1995","journal-title":"Nat. Genet."},{"key":"10.1016\/j.mgene.2015.07.003_bb0040","series-title":"Molecular Cloning: A Laboratory Manual","author":"Sambrook","year":"1989"},{"key":"10.1016\/j.mgene.2015.07.003_bb0045","first-page":"308","article-title":"The first molecular genetics analysis of individuals suffering from nephropathic cystinosis in the Southwestern Iran","volume":"33","author":"Shahkarami","year":"2013","journal-title":"Nefrologia"},{"key":"10.1016\/j.mgene.2015.07.003_bb0055","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1007\/s00467-011-1942-6","article-title":"Genetic basis of cystinosis in Turkish patients: a single-center experience","volume":"27","author":"Topaloglu","year":"2012","journal-title":"Pediatr. Nephrol."},{"key":"10.1016\/j.mgene.2015.07.003_bb0060","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1038\/ng0498-319","article-title":"A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis","volume":"18","author":"Town","year":"1998","journal-title":"Nat. Genet."}],"container-title":["Meta Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2214540015000377?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2214540015000377?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,9,20]],"date-time":"2018-09-20T17:56:21Z","timestamp":1537466181000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2214540015000377"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,9]]},"references-count":11,"alternative-id":["S2214540015000377"],"URL":"https:\/\/doi.org\/10.1016\/j.mgene.2015.07.003","relation":{},"ISSN":["2214-5400"],"issn-type":[{"value":"2214-5400","type":"print"}],"subject":[],"published":{"date-parts":[[2015,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genetic basis of cystinosis in Tunisian patients: Identification of novel mutation in CTNS gene","name":"articletitle","label":"Article Title"},{"value":"Meta Gene","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.mgene.2015.07.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 Published by Elsevier B.V.","name":"copyright","label":"Copyright"}]}}