{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,8]],"date-time":"2026-02-08T03:18:51Z","timestamp":1770520731577,"version":"3.49.0"},"reference-count":13,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2012,8,1]],"date-time":"2012-08-01T00:00:00Z","timestamp":1343779200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"name":"Lesch\u2013Nyhan Syndrome Children's Research Foundation"},{"name":"Harold A. and Madeline R. Jacobs Fund at The San Diego Foundation"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2012,8]]},"DOI":"10.1016\/j.ymgme.2012.06.003","type":"journal-article","created":{"date-parts":[[2012,6,19]],"date-time":"2012-06-19T01:01:43Z","timestamp":1340067703000},"page":"498-501","source":"Crossref","is-referenced-by-count":17,"title":["Lesch\u2013Nyhan Syndrome: mRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNA"],"prefix":"10.1016","volume":"106","author":[{"given":"Khue Vu","family":"Nguyen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert K.","family":"Naviaux","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kacie K.","family":"Paik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William L.","family":"Nyhan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2012.06.003_bb0005","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1016\/0002-9343(64)90104-4","article-title":"A familial disorder of uric acid metabolism and central nervous system function","volume":"36","author":"Lesch","year":"1964","journal-title":"Am. J. Med."},{"key":"10.1016\/j.ymgme.2012.06.003_bb0010","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1093\/brain\/awq013","article-title":"Lesch\u2013Nyhan Disease International Study Group. Attenuated variants of Lesch\u2013Nyhan disease","volume":"133","author":"Jinnah","year":"2010","journal-title":"Brain"},{"key":"10.1016\/j.ymgme.2012.06.003_bb0015","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1128\/MCB.6.2.393","article-title":"Fine structure of the human hypoxanthine phosphoribosyl transferase gene","volume":"6","author":"Patel","year":"1986","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.ymgme.2012.06.003_bb0020","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1080\/15257770802135745","article-title":"Lesch\u2013Nyhan disease","volume":"27","author":"Nyhan","year":"2008","journal-title":"Nucleosides Nucleotides Nucleic Acids"},{"key":"10.1016\/j.ymgme.2012.06.003_bb0025","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1080\/15257770.2011.588187","article-title":"Novel mutations in the human HPRT gene","volume":"30","author":"Nguyen","year":"2011","journal-title":"Nucleosides Nucleotides Nucleic Acids"},{"key":"10.1016\/j.ymgme.2012.06.003_bb0070","series-title":"A-Z of quantitative PCR","first-page":"87","article-title":"Quantification strategies in real-time PCR","author":"Pfaffl","year":"2004"},{"key":"10.1016\/j.ymgme.2012.06.003_bb0035","doi-asserted-by":"crossref","first-page":"1","DOI":"10.2144\/05391RV01","article-title":"Real-time PCR for mRNA quantification","volume":"39","author":"Wong","year":"2005","journal-title":"Biotechniques"},{"key":"10.1016\/j.ymgme.2012.06.003_bb0040","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/j.ymgme.2008.01.006","article-title":"Normal HPRT coding region in complete and partial HPRT deficiency","volume":"94","author":"Garcia","year":"2008","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2012.06.003_bb0045","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1016\/j.ymgme.2005.01.005","article-title":"Normal HPRT coding region in a male with gout due to HPRT deficiency","volume":"85","author":"Dawson","year":"2005","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2012.06.003_bb0050","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1080\/15257771003738675","article-title":"Methylation status of HPRT promoter in HPRT deficiency with normal coding region","volume":"29","author":"Garcia","year":"2010","journal-title":"Nucleosides Nucleotides Nucleic Acids"},{"key":"10.1016\/j.ymgme.2012.06.003_bb0055","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S1673-8527(09)60001-1","article-title":"Small but influential: the role of microRNAs on gene regulatoty network and 3\u2032 UTR evolution","volume":"36","author":"Zhang","year":"2006","journal-title":"J. Genet. Genomics"},{"key":"10.1016\/j.ymgme.2012.06.003_bb0060","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1016\/j.cell.2009.01.002","article-title":"MicroRNAs: target recognition and regulatory functions","volume":"136","author":"Bartel","year":"2009","journal-title":"Cell"},{"key":"10.1016\/j.ymgme.2012.06.003_bb0065","doi-asserted-by":"crossref","first-page":"1153","DOI":"10.1081\/NCN-200027400","article-title":"The spectrum of mutations causing HPRT deficiency: an update","volume":"23","author":"Jinnah","year":"2004","journal-title":"Nucleosides Nucleotides Nucleic Acids"}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719212002375?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719212002375?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,11,22]],"date-time":"2018-11-22T17:57:00Z","timestamp":1542909420000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719212002375"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,8]]},"references-count":13,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2012,8]]}},"alternative-id":["S1096719212002375"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2012.06.003","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2012,8]]}}}