{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T07:57:06Z","timestamp":1789891026145,"version":"4.0.1"},"reference-count":36,"publisher":"Hindawi Limited","issue":"3","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":8278,"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":[[1993]]},"DOI":"10.1002\/humu.1380020304","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T23:08:36Z","timestamp":1118531316000},"page":"174-178","source":"Crossref","is-referenced-by-count":51,"title":["Mutations and polymorphisms in the human ornithine transcarbamylase gene"],"prefix":"10.1155","volume":"2","author":[{"given":"Mendel","family":"Tuchman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"98","reference":[{"key":"10.1002\/humu.1380020304-BIB1","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/0092-8674(84)90081-3","volume":"36","author":"Barker","year":"1984","journal-title":"Cell"},{"key":"10.1002\/humu.1380020304-BIB2","first-page":"629","volume-title":"The Metabolic Basis of Inherited Disease","author":"Brusilow","year":"1989","unstructured":"(1989) Urea cycle enzymes. In (eds): The Metabolic Basis of Inherited Disease. New York: McGraw-Hill, pp 629-663."},{"key":"10.1002\/humu.1380020304-BIB3","first-page":"1105","volume":"48","author":"Carstens","year":"1991","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.1380020304-BIB4","first-page":"471","volume":"29","author":"Feldmann","year":"1992","journal-title":"J Med Genet"},{"key":"10.1002\/humu.1380020304-BIB5","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1016\/S0022-3476(05)80129-5","volume":"117","author":"Finkelstein","year":"1990a","journal-title":"J Pediatr"},{"key":"10.1002\/humu.1380020304-BIB6","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/0888-7543(90)90537-5","volume":"7","author":"Finkelstein","year":"1990b","journal-title":"Genomics"},{"key":"10.1002\/humu.1380020304-BIB7","doi-asserted-by":"crossref","first-page":"5888","DOI":"10.1073\/pnas.86.15.5888","volume":"86","author":"Grompe","year":"1989","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.1380020304-BIB8","first-page":"212","volume":"48","author":"Grompe","year":"1991","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.1380020304-BIB9","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1093\/oxfordjournals.jbchem.a122265","volume":"103","author":"Hata","year":"1988","journal-title":"J Biochem"},{"key":"10.1002\/humu.1380020304-BIB10","first-page":"123","volume":"45","author":"Hata","year":"1989","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.1380020304-BIB11","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1007\/BF01213087","volume":"87","author":"Hata","year":"1991","journal-title":"Hum Genet"},{"key":"10.1002\/humu.1380020304-BIB12","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1007\/BF00206063","volume":"88","author":"Hentzen","year":"1991","journal-title":"Hum Genet"},{"key":"10.1002\/humu.1380020304-BIB13","doi-asserted-by":"crossref","first-page":"1068","DOI":"10.1126\/science.6372096","volume":"224","author":"Horwich","year":"1984","journal-title":"Science"},{"key":"10.1002\/humu.1380020304-BIB14","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1016\/0092-8674(86)90466-6","volume":"44","author":"Horwich","year":"1986","journal-title":"Cell"},{"key":"10.1002\/humu.1380020304-BIB15","doi-asserted-by":"crossref","first-page":"712","DOI":"10.1016\/S0022-3476(85)80398-X","volume":"107","author":"Hudak","year":"1985","journal-title":"J Pediatr"},{"key":"10.1002\/humu.1380020304-BIB16","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1111\/j.1432-1033.1987.tb13525.x","volume":"166","author":"Huygen","year":"1987","journal-title":"Eur J Biochem"},{"key":"10.1002\/humu.1380020304-BIB17","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1093\/nar\/13.3.943","volume":"13","author":"Kraus","year":"1985","journal-title":"Nucleic Acid Res"},{"key":"10.1002\/humu.1380020304-BIB18","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1016\/0022-2836(87)90265-8","volume":"193","author":"Krause","year":"1987","journal-title":"J Mol Biol"},{"key":"10.1002\/humu.1380020304-BIB19","doi-asserted-by":"crossref","first-page":"1762","DOI":"10.1172\/JCI114360","volume":"84","author":"Lee","year":"1989","journal-title":"J Clin Invest"},{"key":"10.1002\/humu.1380020304-BIB20","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1111\/j.1399-0004.1990.tb03565.x","volume":"38","author":"Legius","year":"1990","journal-title":"Clin Genet"},{"key":"10.1002\/humu.1380020304-BIB21","doi-asserted-by":"crossref","first-page":"698","DOI":"10.1126\/science.6494904","volume":"226","author":"Lindgren","year":"1984","journal-title":"Science"},{"key":"10.1002\/humu.1380020304-BIB22","doi-asserted-by":"crossref","first-page":"1353","DOI":"10.1172\/JCI113738","volume":"82","author":"Maddalena","year":"1988a","journal-title":"J Clin Invest"},{"key":"10.1002\/humu.1380020304-BIB23","doi-asserted-by":"crossref","first-page":"999","DOI":"10.1056\/NEJM198810133191507","volume":"319","author":"Maddalena","year":"1988b","journal-title":"N Engl J Med"},{"key":"10.1002\/humu.1380020304-BIB24","doi-asserted-by":"crossref","first-page":"7291","DOI":"10.1016\/S0021-9258(20)79701-2","volume":"225","author":"Marshall","year":"1980","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.1380020304-BIB25","first-page":"228","volume":"39","author":"Nagata","year":"1991","journal-title":"J Med Genet"},{"key":"10.1002\/humu.1380020304-BIB26","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/S0140-6736(85)91966-X","volume":"1","author":"Old","year":"1985","journal-title":"Lancet"},{"key":"10.1002\/humu.1380020304-BIB27","doi-asserted-by":"crossref","first-page":"15683","DOI":"10.1016\/S0021-9258(18)47781-2","volume":"262","author":"Powers-Lee","year":"1987","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.1380020304-BIB28","author":"Reish","year":"1993","unstructured":"(1993) Four new mutations in the ornithine transcarbamylase gene. Biochem Med Metab Biol (in press)."},{"key":"10.1002\/humu.1380020304-BIB29","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1056\/NEJM198602273140903","volume":"314","author":"Rowe","year":"1986","journal-title":"N Engl J Med"},{"key":"10.1002\/humu.1380020304-BIB30","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1038\/313815a0","volume":"313","author":"Rozen","year":"1985","journal-title":"Nature (London)"},{"key":"10.1002\/humu.1380020304-BIB31","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1016\/0885-4505(92)90033-U","volume":"47","author":"Suess","year":"1992","journal-title":"Biochem Med Metab Biol"},{"key":"10.1002\/humu.1380020304-BIB32","author":"Tsai","year":"1993","unstructured":"(1993) Single-strand conformational polymorphism and direct sequencing applied to carrier testing in families with ornithine transcarbamylase deficiency. Hum Genet (in press)."},{"key":"10.1002\/humu.1380020304-BIB33","first-page":"836","volume":"120","author":"Tuchman","year":"1992","journal-title":"J Lab Clin Med"},{"key":"10.1002\/humu.1380020304-BIB34","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1203\/00006450-198907000-00021","volume":"26","author":"Tuchman","year":"1989","journal-title":"Pediatr Res"},{"key":"10.1002\/humu.1380020304-BIB35","first-page":"320","volume":"14","author":"Tuchman","year":"1991","journal-title":"Clin Invest Med"},{"key":"10.1002\/humu.1380020304-BIB36","doi-asserted-by":"crossref","first-page":"600","DOI":"10.1203\/00006450-199211000-00024","volume":"32","author":"Tuchman","year":"1992","journal-title":"Pediatr Res"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.1380020304","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.1380020304","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:48:18Z","timestamp":1672332498000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.1380020304"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993]]},"references-count":36,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1993]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.1380020304","relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993]]}}}