{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,15]],"date-time":"2025-10-15T17:08:18Z","timestamp":1760548098356},"reference-count":14,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,4]],"date-time":"2005-06-04T00:00:00Z","timestamp":1117843200000},"content-version":"vor","delay-in-days":6790,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1986,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe the clinical application of DNA restriction fragment analysis to the genetic evaluation of a family with a child deficient in ornithine transcarbamylase (OTC). The results of protein loading studies and the interpretation of the DNA haplotype profiles for the human OTC gene are reported. DNA restriction fragment analysis may be a reliable technique for the prenatal diagnosis of OTC deficiency and identification of obligate carriers of this gene.<\/jats:p>","DOI":"10.1002\/ajmg.1320250313","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T20:08:47Z","timestamp":1118520527000},"page":"513-518","source":"Crossref","is-referenced-by-count":8,"title":["Clinical application of DNA analysis in a family with OTC deficiency"],"prefix":"10.1002","volume":"25","author":[{"suffix":"Jr.","given":"Richard E.","family":"McClead","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rima","family":"Rozen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joyce","family":"Fox","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leon","family":"Rosenberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James","family":"Menke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rex","family":"Bickers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Grant","family":"Morrow","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,4]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"293","article-title":"Determination of orotic acid in children's urine","volume":"18","author":"Bachman C","year":"1980","journal-title":"J Clin Chem Biochem"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.78.8.5081"},{"key":"e_1_2_1_4_1","first-page":"320","article-title":"Prenatal diagnosis of ornithine transcarbamylase deficiency utilizing fetal liver biopsy","volume":"36","author":"Holzgreve WT","year":"1984","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.6372096"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.6494904"},{"key":"e_1_2_1_7_1","first-page":"135","article-title":"Sex chromatin and gene action in the mammalian X chromosome","volume":"14","author":"Lyon MF","year":"1962","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(85)91966-X"},{"key":"e_1_2_1_9_1","first-page":"332","article-title":"X chromosome inactivation in human liver: Confirmation of X\u2010linkage of ornithine transcarbamylase","volume":"28","author":"Ricciuti FC","year":"1976","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(82)90272-0"},{"key":"e_1_2_1_11_1","first-page":"682","volume-title":"Metabolic Control and Disease","author":"Rosenberg LE","year":"1981"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/313815a0"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197301042880102"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2836(75)80083-0"},{"key":"e_1_2_1_15_1","first-page":"409","volume-title":"The Metabolic Basis of Inherited Disease","author":"Walser M","year":"1983"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320250313","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320250313","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T19:46:19Z","timestamp":1697831179000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320250313"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1986,11]]},"references-count":14,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1986,11]]}},"alternative-id":["10.1002\/ajmg.1320250313"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320250313","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1986,11]]}}}