{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T14:47:52Z","timestamp":1770994072795,"version":"3.50.1"},"reference-count":20,"publisher":"Elsevier BV","issue":"1-2","license":[{"start":{"date-parts":[[2010,10,1]],"date-time":"2010-10-01T00:00:00Z","timestamp":1285891200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2010,10,1]],"date-time":"2010-10-01T00:00:00Z","timestamp":1285891200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2010,10,1]],"date-time":"2010-10-01T00:00:00Z","timestamp":1285891200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2010,10,1]],"date-time":"2010-10-01T00:00:00Z","timestamp":1285891200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2010,10,1]],"date-time":"2010-10-01T00:00:00Z","timestamp":1285891200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2010,10,1]],"date-time":"2010-10-01T00:00:00Z","timestamp":1285891200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2010,10,1]],"date-time":"2010-10-01T00:00:00Z","timestamp":1285891200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis"],"published-print":{"date-parts":[[2010,10]]},"DOI":"10.1016\/j.mrfmmm.2010.07.003","type":"journal-article","created":{"date-parts":[[2010,7,17]],"date-time":"2010-07-17T04:28:21Z","timestamp":1279340901000},"page":"1-5","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":17,"title":["Analysis of the HPRT1 gene in 35 Italian Lesch\u2013Nyhan families: 45 patients and 77 potential female carriers"],"prefix":"10.1016","volume":"692","author":[{"given":"Paola","family":"de Gemmis","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Anesi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisa","family":"Lorenzetto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilenia","family":"Gioachini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisabetta","family":"Fortunati","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gessica","family":"Zandon\u00e0","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erika","family":"Fanin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lynette","family":"Fairbanks","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gilberto","family":"Andrighetto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pietro","family":"Parmigiani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diego","family":"Dolcetta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William L.","family":"Nyhan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Uros","family":"Hladnik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.mrfmmm.2010.07.003_bib0005","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1016\/0888-7543(90)90545-6","article-title":"Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch\u2013Nyhan families","volume":"7","author":"Gibbs","year":"1990","journal-title":"Genomics"},{"key":"10.1016\/j.mrfmmm.2010.07.003_bib0010","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1172\/JCI112275","article-title":"A molecular survey of hypoxanthine-guanine phosphoribosyltransferase deficiency in man","volume":"77","author":"Wilson","year":"1986","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.mrfmmm.2010.07.003_bib0015","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1172\/JCI114160","article-title":"Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts","volume":"84","author":"Davidson","year":"1989","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.mrfmmm.2010.07.003_bib0020","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1080\/15257770802135869","article-title":"Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: novel mutations and the spectrum of Japanese mutations","volume":"27","author":"Yamada","year":"2008","journal-title":"Nucleos. Nucleot. Nucl."},{"key":"10.1016\/j.mrfmmm.2010.07.003_bib0025","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":"Nucleos. Nucleot. Nucl."},{"key":"10.1016\/j.mrfmmm.2010.07.003_bib0030","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1186\/1750-1172-2-48","article-title":"Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch\u2013Nyhan syndrome","volume":"2","author":"Torres","year":"2007","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.mrfmmm.2010.07.003_bib0045","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1093\/nar\/16.3.1215","article-title":"A simple salting out procedure for extracting DNA from human nucleated cells","volume":"16","author":"Miller","year":"1988","journal-title":"Nucl. Acids Res."},{"key":"10.1016\/j.mrfmmm.2010.07.003_bib0050","doi-asserted-by":"crossref","first-page":"1240","DOI":"10.1001\/archneur.65.9.1240","article-title":"Variable expression of HPRT deficiency in 5 members of a family with the same mutation","volume":"65","author":"Hladnik","year":"2008","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.mrfmmm.2010.07.003_bib0055","doi-asserted-by":"crossref","first-page":"246","DOI":"10.2119\/2005-00046.Lapucci","article-title":"Real-time PCR and linkage studies to identify carriers presenting HPRT deleted gene","volume":"12","author":"Lapucci","year":"2006","journal-title":"Mol. Med."},{"key":"10.1016\/j.mrfmmm.2010.07.003_bib0060","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1007\/BF02263652","article-title":"Hypoxanthine-guanine phosphoribosyltransferase variants: correlation of clinical phenotype with enzyme activity","volume":"4","author":"Page","year":"1981","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.mrfmmm.2010.07.003_bib0065","series-title":"Molecular Cloning: A Laboratory Manual","author":"Sambrook","year":"2001"},{"key":"10.1016\/j.mrfmmm.2010.07.003_bib0070","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1007\/BF01799683","article-title":"Characterization of three new deletions at the 5\u2032 end of the HPRT structural gene","volume":"13","author":"Wehnert","year":"1990","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.mrfmmm.2010.07.003_bib0075","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1016\/j.ymgme.2006.08.013","article-title":"Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations","volume":"90","author":"Yamada","year":"2007","journal-title":"Mol. Gen. Met."},{"key":"10.1016\/j.mrfmmm.2010.07.003_bib0080","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1007\/BF00195826","article-title":"Hypoxanthine guanine phosphoribosyltransferase deficiency: nucleotide substitution causing Lesch\u2013Nyhan syndrome identified for the first time among Japanese","volume":"84","author":"Fujimori","year":"1990","journal-title":"Hum. Genet."},{"key":"10.1016\/j.mrfmmm.2010.07.003_bib0085","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1007\/978-1-4615-2584-4_141","article-title":"Direct evidence for a hot spot of germline mutation at HPRT locus","volume":"370","author":"Fujimori","year":"1994","journal-title":"Adv. Esp. Med. Biol."},{"key":"10.1016\/j.mrfmmm.2010.07.003_bib0090","doi-asserted-by":"crossref","DOI":"10.1007\/s10545-008-1013-8","article-title":"Hypoxanthine-guanine phosphoribosylotransferase deficiency\u2014the spectrum of Polish mutations","author":"Jurecka","year":"2008","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.mrfmmm.2010.07.003_bib0095","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1016\/S1383-5742(98)00013-1","article-title":"Mutations that alter RNA splicing of the human HPRT gene: a review of the spectrum","volume":"411","author":"O\u2019Neill","year":"1998","journal-title":"Mutat. Res."},{"key":"10.1016\/j.mrfmmm.2010.07.003_bib0100","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1016\/S1383-5742(00)00052-1","article-title":"The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases","volume":"463","author":"Jinnah","year":"2000","journal-title":"Mutat. Res."},{"issue":"Pt 5","key":"10.1016\/j.mrfmmm.2010.07.003_bib0105","doi-asserted-by":"crossref","first-page":"1201","DOI":"10.1093\/brain\/awl056","article-title":"Delineation of the motor disorder of Lesch\u2013Nyhan disease","volume":"129","author":"Jinnah","year":"2006","journal-title":"Brain"},{"issue":"Pt 3","key":"10.1016\/j.mrfmmm.2010.07.003_bib0110","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1093\/brain\/awq013","article-title":"Attenuated variants of Lesch\u2013Nyhan disease","volume":"133","author":"Jinnah","year":"2010","journal-title":"Brain"}],"container-title":["Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S002751071000196X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S002751071000196X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,12,2]],"date-time":"2025-12-02T09:29:47Z","timestamp":1764667787000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S002751071000196X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,10]]},"references-count":20,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2010,10]]}},"alternative-id":["S002751071000196X"],"URL":"https:\/\/doi.org\/10.1016\/j.mrfmmm.2010.07.003","relation":{},"ISSN":["1386-1964"],"issn-type":[{"value":"1386-1964","type":"print"}],"subject":[],"published":{"date-parts":[[2010,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Analysis of the HPRT1 gene in 35 Italian Lesch\u2013Nyhan families: 45 patients and 77 potential female carriers","name":"articletitle","label":"Article Title"},{"value":"Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.mrfmmm.2010.07.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2010 Elsevier B.V. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}]}}