{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T19:01:17Z","timestamp":1762542077170},"reference-count":10,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2012,9,1]],"date-time":"2012-09-01T00:00:00Z","timestamp":1346457600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Gene"],"published-print":{"date-parts":[[2012,9]]},"DOI":"10.1016\/j.gene.2012.06.043","type":"journal-article","created":{"date-parts":[[2012,7,2]],"date-time":"2012-07-02T10:02:31Z","timestamp":1341223351000},"page":"230-232","source":"Crossref","is-referenced-by-count":14,"title":["Mutation spectrum of the PAH gene in the PKU patients from Khorasan Razavi province of Iran"],"prefix":"10.1016","volume":"506","author":[{"given":"T.","family":"Hamzehloei","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.A.","family":"Hosseini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Vakili","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Mojarad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.gene.2012.06.043_bb0015","first-page":"278","article-title":"Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in Europeans","volume":"56","author":"Eisensmith","year":"1995","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.gene.2012.06.043_bb0070","unstructured":"Guldberg, P., Henriksen, K.F., Lou, H.C., G\u00fcttler, F. 1998. Aberrant phenylalanine metabolism in phenylketonuria heterozygotes. J Inherit Metab Dis. Jun;21(4):365-72."},{"key":"10.1016\/j.gene.2012.06.043_bb0005","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1542\/peds.32.3.338","article-title":"A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants","volume":"32","author":"Guthrie","year":"1963","journal-title":"Pediatrics"},{"key":"10.1016\/j.gene.2012.06.043_bb0020","doi-asserted-by":"crossref","first-page":"S150","DOI":"10.1007\/PL00014381","article-title":"Mutation analysis anticipates dietary requirements in phenylketonuria","volume":"159","author":"G\u00fcttler","year":"2000","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.gene.2012.06.043_bb0045","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/S1096-7192(03)00032-5","article-title":"Molecular characterization of phenylketonuria in South Brazil","volume":"79","author":"Santana da Silava","year":"2003","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.gene.2012.06.043_bb0010","unstructured":"Scriver, C.R., Kaufman, S., 2001. Hyperphenylalanemia: phenylalanine hydroxylase deficiency, in: Scriver, C.R., Baudet, A.L., Sly, W.S., Valle, D. (Eds.), Childs, B., Kinzler, K., Vogelstein, B. (associated Eds.), The metabolics and molecular bases of inherited disease; 8th edition. Mcgraw-Hill, New York. pp. 1667\u20131724."},{"key":"10.1016\/j.gene.2012.06.043_bb0030","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1515\/CCLM.2004.148","article-title":"Quality assessment in cytogenetic and molecular genetic testing: the experience of the Italian project on standardization and quality assurance","volume":"42","author":"Taruscio","year":"2004","journal-title":"Clin. Chem. Lab. Med."},{"issue":"1","key":"10.1016\/j.gene.2012.06.043_bb0040","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/j.ymgme.2010.09.001","article-title":"Mutation spectrum of phenylketonuria in Iranian population","volume":"102","author":"Zare-Karizi","year":"2010","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.gene.2012.06.043_bb0025","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1002\/humu.10192","article-title":"Phenylketonuria mutations in Europe","volume":"21","author":"Zschocke","year":"2003","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.gene.2012.06.043_bb0035","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1002\/humu.1380040204","article-title":"Non-phenylketonuria hyperphenylalaninemia in Northern Ireland: frequent mutation allows screening and early diagnosis","volume":"4","author":"Zschocke","year":"1994","journal-title":"Hum. Mutat."}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111912007536?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111912007536?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,1,20]],"date-time":"2022-01-20T01:10:21Z","timestamp":1642641021000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378111912007536"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,9]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2012,9]]}},"alternative-id":["S0378111912007536"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2012.06.043","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2012,9]]}}}