{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,5,13]],"date-time":"2024-05-13T05:18:09Z","timestamp":1715577489109},"reference-count":19,"publisher":"Hindawi Limited","issue":"2","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":7913,"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":[[1994]]},"DOI":"10.1002\/humu.1380030212","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T14:04:54Z","timestamp":1118498694000},"page":"159-162","source":"Crossref","is-referenced-by-count":12,"title":["Identification of a novel nonsense mutation in the fibrillin gene (FBN1) using nonisotopic techniques"],"prefix":"10.1155","volume":"3","author":[{"given":"Caroline","family":"Hayward","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary E. M.","family":"Porteous","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David J. H.","family":"Brock","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"98","reference":[{"key":"10.1002\/humu.1380030212-BIB1","first-page":"137","volume":"48","author":"Budowle","year":"1991","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.1380030212-BIB2","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1016\/0888-7543(91)90264-F","volume":"9","author":"Dietz","year":"1991a","journal-title":"Genomics"},{"key":"10.1002\/humu.1380030212-BIB3","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1038\/352337a0","volume":"352","author":"Deitz","year":"1991b","journal-title":"Nature (London)"},{"key":"10.1002\/humu.1380030212-BIB4","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1002\/humu.1380010504","volume":"1","author":"Dietz","year":"1992a","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.1380030212-BIB5","author":"Dietz","year":"1992b","unstructured":"(1992b) Discordant Marfan syndrome severity in two patients with trame shift mutations in the fibrillin gene (FBN1) and severe reduction of mutant allele transcript. Abstracts of the Second International Symposium on the Marfan Syndrome, San Francisco, 1992."},{"key":"10.1002\/humu.1380030212-BIB6","doi-asserted-by":"crossref","first-page":"1674","DOI":"10.1172\/JCI115766","volume":"89","author":"Dietz","year":"1992c","journal-title":"J Clin Invest"},{"key":"10.1002\/humu.1380030212-BIB7","first-page":"652","volume":"46","author":"Godfrey","year":"1990","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.1380030212-BIB8","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1093\/hmg\/2.4.475","volume":"2","author":"Hewitt","year":"1993","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.1380030212-BIB9","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1056\/NEJM199007193230303","volume":"323","author":"Hollister","year":"1990","journal-title":"N Engl J Med"},{"key":"10.1002\/humu.1380030212-BIB10","doi-asserted-by":"crossref","first-page":"935","DOI":"10.1056\/NEJM199010043231402","volume":"323","author":"Kainulainen","year":"1990","journal-title":"N Engl J Med"},{"key":"10.1002\/humu.1380030212-BIB11","doi-asserted-by":"crossref","first-page":"5917","DOI":"10.1073\/pnas.89.13.5917","volume":"89","author":"Kainulainen","year":"1992","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.1380030212-BIB12","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1038\/352330a0","volume":"352","author":"Lee","year":"1991","journal-title":"Nature (London)"},{"key":"10.1002\/humu.1380030212-BIB13","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1016\/0888-7543(91)90142-2","volume":"11","author":"Magenis","year":"1991","journal-title":"Genomics"},{"key":"10.1002\/humu.1380030212-BIB14","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1038\/352334a0","volume":"352","author":"Maslen","year":"1991","journal-title":"Nature (London)"},{"key":"10.1002\/humu.1380030212-BIB15","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1172\/JCI115589","volume":"89","author":"Milewicz","year":"1992","journal-title":"J Clin Invest"},{"key":"10.1002\/humu.1380030212-BIB16","doi-asserted-by":"crossref","first-page":"874","DOI":"10.1016\/0888-7543(89)90129-8","volume":"5","author":"Orita","year":"1989","journal-title":"Genomics"},{"key":"10.1002\/humu.1380030212-BIB17","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1093\/hmg\/2.7.961","volume":"2","author":"Pereira","year":"1993","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.1380030212-BIB18","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1136\/jmg.29.2.75","volume":"29","author":"Sarfarazi","year":"1992","journal-title":"J Med Genet"},{"key":"10.1002\/humu.1380030212-BIB19","author":"Tynan","year":"1992","unstructured":"(1992) Search for molecular defects in FBN1 in Marfan syndrome. Abstracts of the Second International Symposium on the Marfan Syndrome, San Francisco, 1992."}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.1380030212","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.1380030212","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:48:42Z","timestamp":1672332522000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.1380030212"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994]]},"references-count":19,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1994]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.1380030212","relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994]]}}}