{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T10:14:38Z","timestamp":1694859278544},"reference-count":12,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2000,11,1]],"date-time":"2000-11-01T00:00:00Z","timestamp":973036800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2000,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The high new mutation rate and the wide spectrum of mutations found in patients with ornithine carbamoyltransferase (OCT) deficiency means that direct mutation analysis is essential for providing accurate carrier detection and prenatal diagnosis in affected families. We present our strategy for mutation detection in the OCT gene and summarize the results from 31 families with a confirmed diagnosis and 34 families with a suspected diagnosis of OCT deficiency, and describe 14 previously unreported mutations.<\/jats:p>","DOI":"10.1023\/a:1005614409241","type":"journal-article","created":{"date-parts":[[2002,12,21]],"date-time":"2002-12-21T23:07:17Z","timestamp":1040512037000},"page":"669-676","source":"Crossref","is-referenced-by-count":14,"title":["Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations"],"prefix":"10.1002","volume":"23","author":[{"given":"S.","family":"Genet","sequence":"first","affiliation":[{"name":"Clinical Molecular Genetics Great Ormond Street Hospital for Children NHS Trust  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Cranston","sequence":"additional","affiliation":[{"name":"Clinical Molecular Genetics Great Ormond Street Hospital for Children NHS Trust  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H. R.","family":"Middleton\u2010Price","sequence":"additional","affiliation":[{"name":"Clinical Molecular Genetics Great Ormond Street Hospital for Children NHS Trust  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2000,11]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.86.15.5888"},{"key":"e_1_2_1_3_1","first-page":"212","article-title":"Improved molecular diagnostics for ornithine transcarbamylase deficiency","volume":"48","author":"Grompe M","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.jbchem.a122265"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.6372096"},{"key":"e_1_2_1_6_1","first-page":"172","article-title":"A new informative NcoI RFLP in the 30UTR of the OTC gene","volume":"31","author":"King SK","year":"1994","journal-title":"J Med Genet"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.6494904"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320390226"},{"key":"e_1_2_1_9_1","first-page":"154","article-title":"A simple effcient method for the separate isolation of RNA and DNA from the same cells","volume":"8","author":"Nicolaides NC","year":"1990","journal-title":"Biotechniques"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050333"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/19.3.690"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320550118"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.9.680"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1023%2FA%3A1005614409241","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1023\/A%3A1005614409241","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T22:35:32Z","timestamp":1694817332000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1023\/A%3A1005614409241"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,11]]},"references-count":12,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2000,11]]}},"alternative-id":["10.1023\/A:1005614409241"],"URL":"https:\/\/doi.org\/10.1023\/a:1005614409241","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2000,11]]}}}