{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T14:54:50Z","timestamp":1790434490441,"version":"4.1.0"},"reference-count":20,"publisher":"BMJ","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2004,8]]},"DOI":"10.1136\/jmg.2004.018507","type":"journal-article","created":{"date-parts":[[2004,7,30]],"date-time":"2004-07-30T14:52:35Z","timestamp":1091199155000},"page":"e108-e108","source":"Crossref","is-referenced-by-count":13,"title":["Expression analysis of an <i>FGFR2<\/i> IIIc 5\u2032 splice site mutation (1084+3A\u2192G)"],"prefix":"10.1136","volume":"41","author":[{"given":"R","family":"Kan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S R F","family":"Twigg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Berg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F","family":"Jin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A O M","family":"Wilkie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2004,7,30]]},"reference":[{"key":"2025101711114710000_41.8.e108.1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/15.17.7155"},{"key":"2025101711114710000_41.8.e108.2","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1016\/0076-6879(90)83018-5","volume":"183","year":"1990","journal-title":"Methods Enzymol"},{"key":"2025101711114710000_41.8.e108.3","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkg830"},{"key":"2025101711114710000_41.8.e108.4","doi-asserted-by":"publisher","DOI":"10.1038\/ng0994-98"},{"key":"2025101711114710000_41.8.e108.5","doi-asserted-by":"publisher","DOI":"10.1086\/338758"},{"key":"2025101711114710000_41.8.e108.6","doi-asserted-by":"publisher","DOI":"10.1126\/science.1846048"},{"key":"2025101711114710000_41.8.e108.7","doi-asserted-by":"publisher","DOI":"10.1086\/302245"},{"key":"2025101711114710000_41.8.e108.8","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.89.7.2960"},{"key":"2025101711114710000_41.8.e108.9","doi-asserted-by":"publisher","DOI":"10.1038\/nrm905"},{"key":"2025101711114710000_41.8.e108.10","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050979"},{"key":"2025101711114710000_41.8.e108.11","doi-asserted-by":"crossref","first-page":"1603","DOI":"10.1097\/00006534-199911000-00001","volume":"104","year":"1999","journal-title":"Plast Reconstr Surg"},{"key":"2025101711114710000_41.8.e108.12","doi-asserted-by":"publisher","DOI":"10.1038\/ng0395-232"},{"key":"2025101711114710000_41.8.e108.13","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1995.1095"},{"key":"2025101711114710000_41.8.e108.14","first-page":"491","volume":"58","year":"1996","journal-title":"Am J Hum Genet"},{"key":"2025101711114710000_41.8.e108.15","first-page":"241","volume":"259","year":"1995","journal-title":"Methods Enzymol"},{"key":"2025101711114710000_41.8.e108.16","doi-asserted-by":"crossref","unstructured":"Yeo G , Burge CB. Maximum entropy modelling of short sequence motifs with applications to RNA splicing signals. In: Miller W, Vingron M, Istrail S, Pevzner P, Waterman M, eds. Proceedings of the 7th annual international conference on computational molecular biology (RECOMB03). New York: ACM Press, 2003:322\u00e2\u0080\u009331.","DOI":"10.1145\/640075.640118"},{"key":"2025101711114710000_41.8.e108.17","doi-asserted-by":"publisher","DOI":"10.1016\/0022-2836(91)90380-O"},{"key":"2025101711114710000_41.8.e108.18","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.ge.28.120194.000245"},{"key":"2025101711114710000_41.8.e108.19","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961202)66:1<81::AID-AJMG19>3.0.CO;2-M"},{"key":"2025101711114710000_41.8.e108.20","doi-asserted-by":"publisher","DOI":"10.1086\/302551"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.2004.018507","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T18:11:54Z","timestamp":1760724714000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.2004.018507"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,7,30]]},"references-count":20,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2004,7,30]]},"published-print":{"date-parts":[[2004,8]]}},"alternative-id":["10.1136\/jmg.2004.018507"],"URL":"https:\/\/doi.org\/10.1136\/jmg.2004.018507","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,7,30]]}}}