{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T10:12:15Z","timestamp":1773742335406,"version":"3.50.1"},"reference-count":36,"publisher":"Hindawi Limited","issue":"5","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":5356,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum. Mutat."],"published-print":{"date-parts":[[2001,11]]},"DOI":"10.1002\/humu.1214","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T21:21:44Z","timestamp":1030310504000},"page":"435-443","source":"Crossref","is-referenced-by-count":10,"title":["A recurrent large Alu-mediated deletion in the hypoxanthine phosphoribosyltransferase (HPRT1) gene associated with Lesch-Nyhan syndrome"],"prefix":"10.1155","volume":"18","author":[{"given":"Makiko","family":"Mizunuma","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shin","family":"Fujimori","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hitoshi","family":"Ogino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takamasa","family":"Ueno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hirokazu","family":"Inoue","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naoyuki","family":"Kamatani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"98","published-online":{"date-parts":[[2001]]},"reference":[{"key":"BIB01","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1002\/pd.1970150406","volume":"15","author":"Alford","year":"1995","journal-title":"Prenat Diagn"},{"key":"BIB02","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1038\/290457a0","volume":"290","author":"Anderson","year":"1981","journal-title":"Nature"},{"key":"BIB03","first-page":"1276","volume":"59","author":"Bendall","year":"1996","journal-title":"Am J Hum Genet"},{"key":"BIB04","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1016\/0165-1161(94)90023-X","volume":"312","author":"Cariello","year":"1994","journal-title":"Mutat Res"},{"key":"BIB05","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1016\/0888-7543(90)90493-E","volume":"6","author":"Edwards","year":"1990","journal-title":"Genomics"},{"key":"BIB06","first-page":"123","volume":"28","author":"Francke","year":"1976","journal-title":"Am J Hum Genet"},{"key":"BIB07","first-page":"117","volume-title":"Population and biological aspects of human mutation","author":"Francke","year":"1981","unstructured":"1981. Use of carrier detection tests to estimate male to female ratio of mutation rates in Lesch-Nyhan disease. In: editors. Population and biological aspects of human mutation. New York: Academic Press. p 117-130."},{"key":"BIB08","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1007\/BF00195826","volume":"84","author":"Fujimori","year":"1990","journal-title":"Hum Genet"},{"key":"BIB09","first-page":"6001","volume":"51","author":"Fuscoe","year":"1991","journal-title":"Cancer Res"},{"key":"BIB10","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/0165-7992(92)90116-Y","volume":"283","author":"Fuscoe","year":"1992","journal-title":"Mutat Res"},{"key":"BIB11","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1093\/hmg\/3.1.199","volume":"3","author":"Fuscoe","year":"1994","journal-title":"Hum Mol Genet"},{"key":"BIB12","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1016\/0888-7543(90)90545-6","volume":"7","author":"Gibbs","year":"1999","journal-title":"Genomics"},{"key":"BIB13","doi-asserted-by":"crossref","first-page":"6715","DOI":"10.1073\/pnas.77.11.6715","volume":"77","author":"Giles","year":"1980","journal-title":"Proc Natl Acad Sci USA"},{"key":"BIB14","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1002\/em.2850220305","volume":"22","author":"Giver","year":"1993","journal-title":"Environ Mol Mutagen"},{"key":"BIB15","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1016\/0378-1119(91)90450-P","volume":"108","author":"Gordon","year":"1991","journal-title":"Gene"},{"key":"BIB16","first-page":"828","volume":"46","author":"Horai","year":"1990","journal-title":"Am J Hum Genet"},{"key":"BIB17","first-page":"579","volume":"59","author":"Horai","year":"1996","journal-title":"Am J Hum Genet"},{"key":"BIB18","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/S0027-5107(98)00076-1","volume":"403","author":"Houten","year":"1998","journal-title":"Mutat Res"},{"key":"BIB19","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1016\/S1383-5742(00)00052-1","volume":"463","author":"Jinnah","year":"2000","journal-title":"Mutat Res"},{"key":"BIB20","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1073\/pnas.80.2.477","volume":"80","author":"Jolly","year":"1983","journal-title":"Proc Natl Acad Sci USA"},{"key":"BIB21","doi-asserted-by":"crossref","first-page":"1735","DOI":"10.1073\/pnas.57.6.1735","volume":"57","author":"Kelley","year":"1967","journal-title":"Proc Natl Acad Sci USA"},{"key":"BIB22","doi-asserted-by":"crossref","first-page":"332","DOI":"10.3346\/jkms.1997.12.4.332","volume":"12","author":"Kim","year":"1997","journal-title":"J Korean Med Sci"},{"key":"BIB23","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1007\/BF00217444","volume":"90","author":"Marcus","year":"1993","journal-title":"Hum Genet"},{"key":"BIB24","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1016\/0888-7543(92)90153-J","volume":"13","author":"Monnat","year":"1992a","journal-title":"Genomics"},{"key":"BIB25","doi-asserted-by":"crossref","first-page":"788","DOI":"10.1016\/0888-7543(92)90154-K","volume":"13","author":"Monnat","year":"1992b","journal-title":"Genomics"},{"key":"BIB26","doi-asserted-by":"crossref","first-page":"1392","DOI":"10.1073\/pnas.90.4.1392","volume":"90","author":"Morris","year":"1993","journal-title":"Proc Natl Acad Sci USA"},{"key":"BIB27","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1128\/MCB.6.2.393","volume":"6","author":"Patel","year":"1986","journal-title":"Mol Cell Biol"},{"key":"BIB28","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/0165-1218(90)90085-G","volume":"242","author":"Recio","year":"1990","journal-title":"Mutat Res"},{"key":"BIB29","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1093\/nar\/23.2.256","volume":"23","author":"R\ufffddiger","year":"1995","journal-title":"Nucleic Acids Res"},{"key":"BIB30","doi-asserted-by":"crossref","first-page":"1682","DOI":"10.1126\/science.155.3770.1682","volume":"155","author":"Seegmiller","year":"1967","journal-title":"Science"},{"key":"BIB31","doi-asserted-by":"crossref","first-page":"1599","DOI":"10.1086\/302902","volume":"66","author":"Sigurgardottir","year":"2000","journal-title":"Am J Hum Genet"},{"key":"BIB32","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1007\/s004390050822","volume":"103","author":"Tvrdik","year":"1998","journal-title":"Hum Genet"},{"key":"BIB33","doi-asserted-by":"crossref","first-page":"1503","DOI":"10.1126\/science.1840702","volume":"253","author":"Vigilant","year":"1991","journal-title":"Science"},{"key":"BIB34","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1023\/A:1005522527689","volume":"22","author":"Willers","year":"1999","journal-title":"J Inherit Metab Dis"},{"key":"BIB35","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1038\/310412a0","volume":"310","author":"Yang","year":"1984","journal-title":"Nature"},{"key":"BIB36","first-page":"242","volume":"49","author":"Yoshii","year":"1995","journal-title":"Nippon Hoigaku Zasshi"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.1214","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.1214","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:52:54Z","timestamp":1672332774000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.1214"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001]]},"references-count":36,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2001,11]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.1214","relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001]]}}}