{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T11:50:57Z","timestamp":1791978657896,"version":"4.4.0"},"reference-count":12,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2013,5,1]],"date-time":"2013-05-01T00:00:00Z","timestamp":1367366400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,26]],"date-time":"2013-07-26T00:00:00Z","timestamp":1374796800000},"content-version":"vor","delay-in-days":86,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Gene"],"published-print":{"date-parts":[[2013,5]]},"DOI":"10.1016\/j.gene.2013.02.008","type":"journal-article","created":{"date-parts":[[2013,2,20]],"date-time":"2013-02-20T22:45:58Z","timestamp":1361400358000},"page":"295-297","source":"Crossref","is-referenced-by-count":18,"title":["Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia"],"prefix":"10.1016","volume":"519","author":[{"given":"Aria","family":"Setoodeh","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amirreza","family":"Haghighi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nasrollah","family":"Saleh-Gohari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sian","family":"Ellard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alireza","family":"Haghighi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.gene.2013.02.008_bb0005","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1530\/eje.1.02305","article-title":"Thiamine transporter mutation: an example of monogenic diabetes mellitus","volume":"155","author":"Alzahrani","year":"2006","journal-title":"Eur. J. Endocrinol."},{"issue":"888\u2013892","key":"10.1016\/j.gene.2013.02.008_bb0010","first-page":"e1","article-title":"Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update","volume":"155","author":"Bergmann","year":"2009","journal-title":"J. Pediatr."},{"key":"10.1016\/j.gene.2013.02.008_bb0015","doi-asserted-by":"crossref","first-page":"31925","DOI":"10.1074\/jbc.274.45.31925","article-title":"Cloning of the human thiamine transporter, a member of the folate transporter family","volume":"274","author":"Dutta","year":"1999","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.gene.2013.02.008_bb0020","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1038\/10379","article-title":"The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter","volume":"22","author":"Fleming","year":"1999","journal-title":"Nat. Genet."},{"key":"10.1016\/j.gene.2013.02.008_bb0025","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1007\/s10162-006-0035-x","article-title":"Deletion of SLC19A2, the high affinity thiamine transporter, causes selective inner hair cell loss and an auditory neuropathy phenotype","volume":"7","author":"Liberman","year":"2006","journal-title":"J. Assoc. Res. Otolaryngol."},{"key":"10.1016\/j.gene.2013.02.008_bb0030","doi-asserted-by":"crossref","first-page":"1335","DOI":"10.1086\/301642","article-title":"Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping","volume":"61","author":"Neufeld","year":"1997","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.gene.2013.02.008_bb7000","doi-asserted-by":"crossref","unstructured":"Oishi, K., Diaz, G.A. Thiamine-Responsive Megaloblastic Anemia Syndrome. 2003 Oct 24 [Updated 2012 Sep 20]. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews\u2122 [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from: http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1282\/.","DOI":"10.1201\/9780203913420.ch31"},{"key":"10.1016\/j.gene.2013.02.008_bb0040","first-page":"301","article-title":"Thiamine-responsive megaloblastic anemia: early diagnosis may be effective in preventing deafness","volume":"51","author":"Onal","year":"2009","journal-title":"Turk. J. Pediatr."},{"key":"10.1016\/j.gene.2013.02.008_bb0045","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1034\/j.1399-5448.2002.30407.x","article-title":"TRMA syndrome (thiamine-responsive megaloblastic anemia): a case report and review of the literature","volume":"3","author":"Ozdemir","year":"2002","journal-title":"Pediatr. Diabetes"},{"key":"10.1016\/j.gene.2013.02.008_bb0050","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1016\/S0022-3476(69)80031-4","article-title":"Thiamine-responsive megaloblastic anemia","volume":"74","author":"Porter","year":"1969","journal-title":"J. Pediatr."},{"key":"10.1016\/j.gene.2013.02.008_bb0055","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1080\/08035250500323715","article-title":"Thiamine-responsive megaloblastic anaemia syndrome: long-term follow-up and mutation analysis of seven families","volume":"95","author":"Ricketts","year":"2006","journal-title":"Acta Paediatr."},{"key":"10.1016\/j.gene.2013.02.008_bb0060","doi-asserted-by":"crossref","first-page":"G572","DOI":"10.1152\/ajpgi.00484.2011","article-title":"Relative contribution of THTR-1 and THTR-2 in thiamin uptake by pancreatic acinar cells: studies utilizing Slc19a2 and Slc19a3 knockout mouse models","volume":"302","author":"Subramanian","year":"2012","journal-title":"Am. J. Physiol. Gastrointest. Liver Physiol."}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111913001820?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111913001820?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,2,9]],"date-time":"2022-02-09T03:02:00Z","timestamp":1644375720000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378111913001820"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,5]]},"references-count":12,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2013,5]]}},"alternative-id":["S0378111913001820"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2013.02.008","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2013,5]]}}}