{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T12:26:59Z","timestamp":1791203219872,"version":"4.2.0"},"reference-count":16,"publisher":"Oxford University Press (OUP)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Molecular Genetics"],"published-print":{"date-parts":[[2014,3,15]]},"DOI":"10.1093\/hmg\/ddt550","type":"journal-article","created":{"date-parts":[[2013,11,12]],"date-time":"2013-11-12T02:23:29Z","timestamp":1384223009000},"page":"1602-1605","source":"Crossref","is-referenced-by-count":66,"title":["A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex"],"prefix":"10.1093","volume":"23","author":[{"given":"M. E.","family":"Losfeld","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B. G.","family":"Ng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Kircher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K. J.","family":"Buckingham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E. H.","family":"Turner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Eroshkin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. D.","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Shendure","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. A.","family":"Nickerson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. J.","family":"Bamshad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"University of Washington Center for Mendelian Genomics","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H. H.","family":"Freeze","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2013,11,11]]},"reference":[{"issue":"5","key":"1_40954275","doi-asserted-by":"publisher","first-page":"576","DOI":"10.1016\/j.sbi.2011.08.005","volume":"21","author":"Schwarz","year":"2011","journal-title":"Current opinion in structural biology","ISSN":"https:\/\/id.crossref.org\/issn\/0959-440X","issn-type":"print"},{"issue":"10","key":"2_44955246","doi-asserted-by":"publisher","first-page":"6936","DOI":"10.1074\/jbc.R112.429274","volume":"288","year":"2013","journal-title":"Journal of Biological Chemistry","ISSN":"https:\/\/id.crossref.org\/issn\/0021-9258","issn-type":"print"},{"issue":"5","key":"3_42420902","doi-asserted-by":"publisher","first-page":"453","DOI":"10.1016\/S1474-4422(12)70040-6","volume":"11","author":"Freeze","year":"2012","journal-title":"Lancet. Neurology","ISSN":"https:\/\/id.crossref.org\/issn\/1474-4422","issn-type":"print"},{"issue":"2","key":"4_18782118","doi-asserted-by":"publisher","first-page":"445","DOI":"10.1016\/j.jmb.2005.02.053","volume":"348","author":"M\u00a0\u00a0n\u00a0\u00a0tret","year":"2005","journal-title":"Journal of molecular biology","ISSN":"https:\/\/id.crossref.org\/issn\/0022-2836","issn-type":"print"},{"issue":"7","key":"5_18111953","doi-asserted-by":"publisher","first-page":"997","DOI":"10.1083\/jcb.200312079","volume":"164","year":"2004","journal-title":"The Journal of Cell Biology","ISSN":"https:\/\/id.crossref.org\/issn\/0021-9525","issn-type":"print"},{"issue":"2","key":"6_10265210","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1111\/j.1432-1033.1993.tb17933.x","volume":"214","author":"Hartmann","year":"1993","journal-title":"FEBS Journal","ISSN":"https:\/\/id.crossref.org\/issn\/0014-2956","issn-type":"print"},{"issue":"40","key":"7_6161504","doi-asserted-by":"publisher","first-page":"26094","DOI":"10.1074\/jbc.273.40.26094","volume":"273","author":"Sanjay","year":"1998","journal-title":"Journal of Biological Chemistry","ISSN":"https:\/\/id.crossref.org\/issn\/0021-9258","issn-type":"print"},{"key":"8_46887018","doi-asserted-by":"crossref","first-page":"37","DOI":"10.6026\/97320630009037","volume":"9","year":"2013","ISSN":"https:\/\/id.crossref.org\/issn\/0973-2063","issn-type":"print"},{"issue":"5","key":"9_47384149","doi-asserted-by":"publisher","first-page":"483","DOI":"10.1038\/sj.embor.7400933","volume":"8","year":"2007","journal-title":"EMBO reports","ISSN":"https:\/\/id.crossref.org\/issn\/1469-221X","issn-type":"print"},{"issue":"10","key":"10_42818780","doi-asserted-by":"publisher","first-page":"4210","DOI":"10.1096\/fj.12-211656","volume":"26","year":"2012","journal-title":"The FASEB Journal","ISSN":"https:\/\/id.crossref.org\/issn\/0892-6638","issn-type":"print"},{"issue":"2","key":"11_41929613","doi-asserted-by":"publisher","first-page":"363","DOI":"10.1016\/j.ajhg.2011.12.024","volume":"90","author":"Jones","year":"2012","journal-title":"American journal of human genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"},{"issue":"22","key":"12_46125906","doi-asserted-by":"publisher","first-page":"4638","DOI":"10.1093\/hmg\/ddt312","volume":"22","year":"2013","journal-title":"Human Molecular Genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0964-6906","issn-type":"print"},{"issue":"1","key":"13_5726048","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1006\/geno.1997.4822","volume":"44","author":"Brenner","year":"1997","journal-title":"Genomics","ISSN":"https:\/\/id.crossref.org\/issn\/0888-7543","issn-type":"print"},{"key":"14_28652099","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1042\/bj3120205","volume":"312","year":"1995","journal-title":"The Biochemical journal","ISSN":"https:\/\/id.crossref.org\/issn\/0264-6021","issn-type":"print"},{"key":"15_46887019","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1007\/978-1-62703-465-4_20","volume":"1022","year":"2013","journal-title":"Methods in molecular biology (Clifton, N.J.)","ISSN":"https:\/\/id.crossref.org\/issn\/1064-3745","issn-type":"print"},{"key":"16_46251211","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1002\/ajmg.a.35809","volume":"161","year":"2013","journal-title":"American journal of medical genetics. Part A","ISSN":"https:\/\/id.crossref.org\/issn\/1552-4825","issn-type":"print"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/23\/6\/1602\/2194770\/ddt550.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,8,23]],"date-time":"2017-08-23T09:51:46Z","timestamp":1503481906000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article-lookup\/doi\/10.1093\/hmg\/ddt550"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,11,11]]},"references-count":16,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2014,2,19]]},"published-print":{"date-parts":[[2014,3,15]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddt550","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,11,11]]}}}