{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,29]],"date-time":"2026-01-29T23:52:53Z","timestamp":1769730773845,"version":"3.49.0"},"reference-count":55,"publisher":"Elsevier BV","issue":"35","license":[{"start":{"date-parts":[[1996,8,1]],"date-time":"1996-08-01T00:00:00Z","timestamp":838857600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,10,23]],"date-time":"2020-10-23T00:00:00Z","timestamp":1603411200000},"content-version":"vor","delay-in-days":8849,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Biological Chemistry"],"published-print":{"date-parts":[[1996,8]]},"DOI":"10.1074\/jbc.271.35.21068","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T15:07:05Z","timestamp":1027696025000},"page":"21068-21074","source":"Crossref","is-referenced-by-count":47,"title":["Multiexon Deletions in the Type I Collagen COL1A2 Gene in Osteogenesis Imperfecta Type"],"prefix":"10.1016","volume":"271","author":[{"given":"Stefan","family":"Mundlos","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Danny","family":"Chan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi Ma","family":"Weng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David O.","family":"Sillence","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William G.","family":"Cole","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John F.","family":"Bateman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1074\/jbc.271.35.21068_bib1","series-title":"Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects","first-page":"317","author":"Byers","year":"1993"},{"key":"10.1074\/jbc.271.35.21068_bib2","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1146\/annurev.me.43.020192.001413","volume":"43","author":"Byers","year":"1992","journal-title":"Annu. Rev. Med."},{"key":"10.1074\/jbc.271.35.21068_bib3","doi-asserted-by":"crossref","first-page":"2052","DOI":"10.1096\/fasebj.5.7.2010058","volume":"5","author":"Kuivaniemi","year":"1991","journal-title":"FASEB J."},{"key":"10.1074\/jbc.271.35.21068_bib4","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1136\/jmg.16.2.101","volume":"16","author":"Sillence","year":"1979","journal-title":"J. Med. Genet."},{"key":"10.1074\/jbc.271.35.21068_bib5","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1136\/jmg.20.3.203","volume":"20","author":"Paterson","year":"1983","journal-title":"J. Med. Genet."},{"key":"10.1074\/jbc.271.35.21068_bib6","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1172\/JCI114424","volume":"85","author":"Willing","year":"1990","journal-title":"J. Clin. Invest."},{"key":"10.1074\/jbc.271.35.21068_bib7","first-page":"638","volume":"55","author":"Willing","year":"1994","journal-title":"Am. J. Hum. Genet."},{"key":"10.1074\/jbc.271.35.21068_bib8","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1002\/ajmg.1320450214","volume":"45","author":"Willing","year":"1993","journal-title":"Am. J. Med. Genet."},{"key":"10.1074\/jbc.271.35.21068_bib9","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1172\/JCI115622","volume":"89","author":"Shapiro","year":"1992","journal-title":"J. Clin. Invest."},{"key":"10.1074\/jbc.271.35.21068_bib10","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1136\/jmg.28.7.433","volume":"28","author":"Byers","year":"1991","journal-title":"J. Med. Genet."},{"key":"10.1074\/jbc.271.35.21068_bib11","doi-asserted-by":"crossref","first-page":"21827","DOI":"10.1016\/S0021-9258(18)54712-8","volume":"266","author":"Deak","year":"1991","journal-title":"J. Biol. Chem."},{"key":"10.1074\/jbc.271.35.21068_bib12","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1111\/j.1432-1033.1993.tb18220.x","volume":"217","author":"Valli","year":"1993","journal-title":"Eur. J. Biochem."},{"key":"10.1074\/jbc.271.35.21068_bib13","doi-asserted-by":"crossref","first-page":"1206","DOI":"10.1172\/JCI114286","volume":"84","author":"Starman","year":"1989","journal-title":"J. Clin. Invest."},{"key":"10.1074\/jbc.271.35.21068_bib14","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1016\/0168-9525(90)90235-X","volume":"6","author":"Byers","year":"1990","journal-title":"Trends Genet."},{"key":"10.1074\/jbc.271.35.21068_bib15","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1007\/BF00219169","volume":"89","author":"Mottes","year":"1992","journal-title":"Hum. Genet."},{"key":"10.1074\/jbc.271.35.21068_bib16","doi-asserted-by":"crossref","first-page":"14605","DOI":"10.1016\/S0021-9258(18)68076-7","volume":"263","author":"Cohn","year":"1988","journal-title":"J. Biol. Chem."},{"key":"10.1074\/jbc.271.35.21068_bib17","doi-asserted-by":"crossref","first-page":"23108","DOI":"10.1016\/S0021-9258(18)50063-6","volume":"267","author":"Niyibizi","year":"1992","journal-title":"J. Biol. Chem."},{"key":"10.1074\/jbc.271.35.21068_bib18","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1016\/0945-053X(94)90189-9","volume":"14","author":"Bateman","year":"1994","journal-title":"Matrix Biol."},{"key":"10.1074\/jbc.271.35.21068_bib19","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1007\/BF02265286","volume":"88","author":"Nicholls","year":"1992","journal-title":"Hum. Genet."},{"key":"10.1074\/jbc.271.35.21068_bib20","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1007\/BF00218258","volume":"91","author":"Zhuang","year":"1993","journal-title":"Hum. Genet."},{"key":"10.1074\/jbc.271.35.21068_bib21","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1007\/BF00201570","volume":"93","author":"Mottes","year":"1994","journal-title":"Hum. Genet."},{"key":"10.1074\/jbc.271.35.21068_bib22","doi-asserted-by":"crossref","first-page":"31","DOI":"10.3109\/03008209309061964","volume":"29","author":"Superti-Furga","year":"1993","journal-title":"Connect. Tissue Res."},{"key":"10.1074\/jbc.271.35.21068_bib23","doi-asserted-by":"crossref","first-page":"2590","DOI":"10.1016\/S0021-9258(18)52286-9","volume":"266","author":"Wenstrup","year":"1991","journal-title":"J. Biol. Chem."},{"key":"10.1074\/jbc.271.35.21068_bib24","first-page":"293","volume":"46","author":"Sykes","year":"1990","journal-title":"Am. J. Hum. Genet."},{"key":"10.1074\/jbc.271.35.21068_bib25","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1002\/ajmg.1320450207","volume":"45","author":"Sillence","year":"1993","journal-title":"Am. J. Med. Genet."},{"key":"10.1074\/jbc.271.35.21068_bib26","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1042\/bj2170103","volume":"217","author":"Bateman","year":"1984","journal-title":"Biochem. J."},{"key":"10.1074\/jbc.271.35.21068_bib27","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1042\/bj2400699","volume":"240","author":"Bateman","year":"1986","journal-title":"Biochem. J."},{"key":"10.1074\/jbc.271.35.21068_bib28","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1042\/bj2690175","volume":"269","author":"Chan","year":"1990","journal-title":"Biochem. J."},{"key":"10.1074\/jbc.271.35.21068_bib29","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/0003-2697(88)90025-5","volume":"168","author":"Bateman","year":"1988","journal-title":"Anal. Biochem."},{"key":"10.1074\/jbc.271.35.21068_bib30","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/0003-2697(88)90164-9","volume":"173","author":"Gough","year":"1988","journal-title":"Anal. Biochem."},{"key":"10.1074\/jbc.271.35.21068_bib31","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1042\/bj3020729","volume":"302","author":"Bateman","year":"1994","journal-title":"Biochem. J."},{"key":"10.1074\/jbc.271.35.21068_bib32","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1093\/nar\/16.3.1215","volume":"16","author":"Miller","year":"1988","journal-title":"Nucleic Acids Res."},{"key":"10.1074\/jbc.271.35.21068_bib33","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1016\/0003-2697(92)90352-8","volume":"201","author":"Douglas","year":"1992","journal-title":"Anal. Biochem."},{"key":"10.1074\/jbc.271.35.21068_bib34","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1002\/ajmg.1320450216","volume":"45","author":"Bateman","year":"1993","journal-title":"Am. J. Med. Genet."},{"key":"10.1074\/jbc.271.35.21068_bib35","doi-asserted-by":"crossref","first-page":"16032","DOI":"10.1016\/S0021-9258(18)47691-0","volume":"262","author":"de Wet","year":"1987","journal-title":"J. Biol. Chem."},{"key":"10.1074\/jbc.271.35.21068_bib36","first-page":"305","volume":"48","author":"Vasan","year":"1991","journal-title":"Am. J. Hum. Genet."},{"key":"10.1074\/jbc.271.35.21068_bib37","doi-asserted-by":"crossref","first-page":"5142","DOI":"10.1073\/pnas.78.8.5142","volume":"78","author":"Barsh","year":"1981","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1074\/jbc.271.35.21068_bib38","doi-asserted-by":"crossref","first-page":"2870","DOI":"10.1073\/pnas.82.9.2870","volume":"82","author":"Barsh","year":"1985","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1074\/jbc.271.35.21068_bib39","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1038\/304078a0","volume":"304","author":"Chu","year":"1983","journal-title":"Nature"},{"key":"10.1074\/jbc.271.35.21068_bib40","doi-asserted-by":"crossref","first-page":"8398","DOI":"10.1016\/S0021-9258(18)68491-1","volume":"263","author":"Willing","year":"1988","journal-title":"J. Biol. Chem."},{"key":"10.1074\/jbc.271.35.21068_bib41","doi-asserted-by":"crossref","first-page":"10128","DOI":"10.1016\/S0021-9258(17)44615-1","volume":"258","author":"Myers","year":"1983","journal-title":"J. Biol. Chem."},{"key":"10.1074\/jbc.271.35.21068_bib42","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1042\/bj2140001","volume":"214","author":"Bienkowski","year":"1983","journal-title":"Biochem. J."},{"key":"10.1074\/jbc.271.35.21068_bib43","doi-asserted-by":"crossref","first-page":"8642","DOI":"10.1074\/jbc.270.15.8642","volume":"270","author":"Lamand\u00e9","year":"1995","journal-title":"J. Biol. Chem."},{"key":"10.1074\/jbc.271.35.21068_bib44","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1002\/jbmr.5650070709","volume":"7","author":"Chipman","year":"1992","journal-title":"J. Bone Miner. Res."},{"key":"10.1074\/jbc.271.35.21068_bib45","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1002\/jbmr.5650070809","volume":"7","author":"Fedarko","year":"1992","journal-title":"J. Bone Miner. Res."},{"key":"10.1074\/jbc.271.35.21068_bib46","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1042\/bj2230587","volume":"223","author":"Vogel","year":"1984","journal-title":"Biochem. J."},{"key":"10.1074\/jbc.271.35.21068_bib47","doi-asserted-by":"crossref","first-page":"2042","DOI":"10.1096\/fasebj.3.9.2663581","volume":"3","author":"Heineg\u00e5rd","year":"1989","journal-title":"FASEB J."},{"key":"10.1074\/jbc.271.35.21068_bib48","doi-asserted-by":"crossref","first-page":"963","DOI":"10.1016\/0022-2836(92)90878-N","volume":"228","author":"Katz","year":"1992","journal-title":"J. Mol. Biol."},{"key":"10.1074\/jbc.271.35.21068_bib49","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1021\/bi00117a013","volume":"31","author":"Otsubo","year":"1992","journal-title":"Biochemistry"},{"key":"10.1074\/jbc.271.35.21068_bib50","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1146\/annurev.bi.53.070184.003441","volume":"53","author":"Eyre","year":"1984","journal-title":"Annu. Rev. Biochem."},{"key":"10.1074\/jbc.271.35.21068_bib51","series-title":"Collagen: Biochemistry","first-page":"157","author":"Yamauchi","year":"1988"},{"key":"10.1074\/jbc.271.35.21068_bib52","doi-asserted-by":"crossref","first-page":"7107","DOI":"10.1021\/bi00443a048","volume":"28","author":"Dombrowski","year":"1989","journal-title":"Biochemistry"},{"key":"10.1074\/jbc.271.35.21068_bib53","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1016\/0022-2836(89)90335-5","volume":"210","author":"Hulmes","year":"1989","journal-title":"J. Mol. Biol."},{"key":"10.1074\/jbc.271.35.21068_bib54","doi-asserted-by":"crossref","first-page":"15758","DOI":"10.1016\/S0021-9258(18)82320-1","volume":"268","author":"Holmes","year":"1993","journal-title":"J. Biol. Chem."},{"key":"10.1074\/jbc.271.35.21068_bib55","series-title":"Connective Tissue and Its Heritable Disorders","first-page":"351","author":"Steinmann","year":"1993"}],"container-title":["Journal of Biological Chemistry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S002192581974616X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S002192581974616X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1074\/jbc.271.35.21068","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,1,3]],"date-time":"2022-01-03T20:35:48Z","timestamp":1641242148000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S002192581974616X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,8]]},"references-count":55,"journal-issue":{"issue":"35","published-print":{"date-parts":[[1996,8]]}},"alternative-id":["S002192581974616X"],"URL":"https:\/\/doi.org\/10.1074\/jbc.271.35.21068","relation":{},"ISSN":["0021-9258"],"issn-type":[{"value":"0021-9258","type":"print"}],"subject":[],"published":{"date-parts":[[1996,8]]}}}