{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T18:14:31Z","timestamp":1759774471012},"reference-count":33,"publisher":"Elsevier BV","issue":"1-2","license":[{"start":{"date-parts":[[2009,12,1]],"date-time":"2009-12-01T00:00:00Z","timestamp":1259625600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinica Chimica Acta"],"published-print":{"date-parts":[[2009,12]]},"DOI":"10.1016\/j.cca.2009.09.016","type":"journal-article","created":{"date-parts":[[2009,9,19]],"date-time":"2009-09-19T04:58:21Z","timestamp":1253336301000},"page":"39-42","source":"Crossref","is-referenced-by-count":8,"title":["A novel insertion mutation in the SEDL gene results in X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree"],"prefix":"10.1016","volume":"410","author":[{"given":"Xin-Yi","family":"Xia","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying-Xia","family":"Cui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu-Chun","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xin","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi-Chao","family":"Shi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li","family":"Wei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiao-Jun","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu-Feng","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ting-Ting","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.cca.2009.09.016_bib1","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1038\/sj.ejhg.5201025","article-title":"Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400)","volume":"11","author":"Savarirayan","year":"2003","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.cca.2009.09.016_bib2","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1038\/11976","article-title":"Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda","volume":"22","author":"Gedeon","year":"1999","journal-title":"Nat Genet"},{"key":"10.1016\/j.cca.2009.09.016_bib3","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1001\/jama.1939.02800270021006","article-title":"Hereditary osteochondrodystrophia deformans: a family with twenty members affected in five generations","volume":"113","author":"Jacobsen","year":"1939","journal-title":"J Am Med Assoc"},{"key":"10.1016\/j.cca.2009.09.016_bib4","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1002\/humu.9254","article-title":"X-linked spondyloepiphyseal dysplasia tarda: novel and recurrent mutations in 13 European families","volume":"24","author":"Fiedler","year":"2004","journal-title":"Hum Mutat"},{"key":"10.1016\/j.cca.2009.09.016_bib5","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1034\/j.1399-0004.2003.00132.x","article-title":"Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4","volume":"64","author":"Shaw","year":"2003","journal-title":"Clin Genet"},{"key":"10.1016\/j.cca.2009.09.016_bib6","doi-asserted-by":"crossref","first-page":"2032","DOI":"10.1111\/j.1600-0854.2008.00833.x","article-title":"The TRAPP complex: insights into its architecture and function","volume":"9","author":"Sacher","year":"2008","journal-title":"Traffic"},{"key":"10.1016\/j.cca.2009.09.016_bib7","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/S0014-5793(03)00228-X","article-title":"Interaction of Sedlin with chloride intracellular channel proteins","volume":"540","author":"Fan","year":"2003","journal-title":"FEBS Lett"},{"key":"10.1016\/j.cca.2009.09.016_bib8","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1016\/j.cca.2007.04.005","article-title":"A first familial G504S mutation of COL2A1 gene results in distinctive spondyloepiphyseal dysplasia congenita","volume":"382","author":"Xia","year":"2007","journal-title":"Clin Chim Acta"},{"key":"10.1016\/j.cca.2009.09.016_bib9","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.cca.2007.09.006","article-title":"Molecular prenatal diagnosis in 2 pregnancies at risk for spondyloepiphyseal dysplasia congenita","volume":"387","author":"Xia","year":"2008","journal-title":"Clin Chim Acta"},{"key":"10.1016\/j.cca.2009.09.016_bib10","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1089\/gte.2008.0037","article-title":"Rapid molecular prenatal diagnosis of spondyleopiphyseal dysplasia congenita by PCR - SSP assay","volume":"12","author":"Cui","year":"2008","journal-title":"Genet Testing"},{"key":"10.1016\/j.cca.2009.09.016_bib11","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1016\/j.cca.2008.07.030","article-title":"A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family","volume":"398","author":"Xia","year":"2008","journal-title":"Clin Chim Acta"},{"key":"10.1016\/j.cca.2009.09.016_bib12","doi-asserted-by":"crossref","first-page":"1386","DOI":"10.1086\/320592","article-title":"The molecular basis of X-linked spondyloepiphyseal dysplasia tarda","volume":"68","author":"Gedeon","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.cca.2009.09.016_bib13","first-page":"15","article-title":"Identification of a novel mutation IVS2-2A>C of SEDL gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda","volume":"20","author":"Gao","year":"2003","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"key":"10.1016\/j.cca.2009.09.016_bib14","first-page":"421","article-title":"Mutational analysis in a family with X-linked spondyloepiphyseal dysplasia tarda","volume":"25","author":"Zhu","year":"2008","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"key":"10.1016\/j.cca.2009.09.016_bib15","first-page":"15","article-title":"Identification of a missense mutation in SEDL gene from a Chinese family with X-linked spondyloepiphyseal dysplasia tarda","volume":"25","author":"Zhou","year":"2008","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"key":"10.1016\/j.cca.2009.09.016_bib16","first-page":"150","article-title":"A novel mutation in the SEDL gene leading to X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree","volume":"25","author":"Lin","year":"2008","journal-title":"Zhonghua Yi Xue Yi Chuan. Xue Za Zhi"},{"key":"10.1016\/j.cca.2009.09.016_bib17","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1038\/ejhg.2008.219","article-title":"Noncanonical and canonical splice sites: a novel mutation at the rare noncanonical splice-donor cut site (IVS4+1A>G) of SEDL causes variable splicing isoforms in X-linked spondyloepiphyseal dysplasia tarda","volume":"17","author":"Xiong","year":"2009","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.cca.2009.09.016_bib18","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1007\/s12041-009-0012-3","article-title":"A novel RNA-splicing mutation in TRAPPC2 gene causing x-linked spondyloepiphyseal dysplasia tarda in a large Chinese family","volume":"88","author":"Guo","year":"2009","journal-title":"J Genet"},{"key":"10.1016\/j.cca.2009.09.016_bib19","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/S0027-5107(02)00315-9","article-title":"A single nucleotide deletion of 293delT in SEDL gene causing spondyloepiphyseal dysplasia tarda in a four-generation Chinese family","volume":"525","author":"Xiao","year":"2003","journal-title":"Mutat Res"},{"key":"10.1016\/j.cca.2009.09.016_bib20","first-page":"251","article-title":"Mutation of acceptor splice site of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda causes the activation of cryptic splice site","volume":"22","author":"Ma","year":"2005","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"key":"10.1016\/j.cca.2009.09.016_bib21","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1159\/000066694","article-title":"A novel nonsense mutation of the sedlin gene in a family with spondyloepiphyseal dysplasia tarda","volume":"54","author":"Shi","year":"2002","journal-title":"Hum Hered"},{"key":"10.1016\/j.cca.2009.09.016_bib22","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1002\/ajmg.a.20435","article-title":"X-linked spondyloepiphyseal dysplasia tarda: a novel SEDL mutation in a Jewish Ashkenazi family and clinical intervention considerations","volume":"125A","author":"Bar-Yosef","year":"2004","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.cca.2009.09.016_bib23","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1080\/00016470310018298","article-title":"X-linked spondyloepiphyseal dysplasia tarda: molecular cause of a heritable disorder associated with early degenerative joint disease","volume":"74","author":"Fiedler","year":"2003","journal-title":"Acta Orthop Scand"},{"key":"10.1016\/j.cca.2009.09.016_bib24","doi-asserted-by":"crossref","first-page":"3233","DOI":"10.1210\/jc.86.7.3233","article-title":"Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda","volume":"86","author":"Christie","year":"2001","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.cca.2009.09.016_bib25","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1034\/j.1399-0004.2002.610416.x","article-title":"An SEDL gene mutation in a Japanese kindred of X-linked spondyloepiphyseal dysplasia tarda","volume":"61","author":"Takahashi","year":"2002","journal-title":"Clin Genet"},{"key":"10.1016\/j.cca.2009.09.016_bib26","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1007\/BF00191797","article-title":"Genetic mapping of Xp22.12\u2013p22.31, with a refined localization for spondyloepiphyseal dysplasia (SEDL)","volume":"96","author":"Heuertz","year":"1995","journal-title":"Hum Genet"},{"key":"10.1016\/j.cca.2009.09.016_bib27","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1002\/ajmg.1179","article-title":"Loss of the SEDL gene product (Sedlin) causes X-linked spondyloepiphyseal dysplasia tarda: identification of a molecular defect in a Japanese family","volume":"99","author":"Matsui","year":"2001","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.cca.2009.09.016_bib28","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1002\/ajmg.a.30161","article-title":"Identification of a SEDL gene mutation in an individual with Leber hereditary optic neuropathy and spondyloepiphyseal dysplasia","volume":"129A","author":"Shaw","year":"2004","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.cca.2009.09.016_bib29","doi-asserted-by":"crossref","first-page":"2245","DOI":"10.1359\/jbmr.2001.16.12.2245","article-title":"Preonset studies of spondyloepiphyseal dysplasia tarda caused by a novel 2-base pair deletion in SEDL encoding sedlin","volume":"16","author":"Mumm","year":"2001","journal-title":"J Bone Miner Res"},{"key":"10.1016\/j.cca.2009.09.016_bib30","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1136\/jmg.38.6.409","article-title":"A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree","volume":"38","author":"Grunebaum","year":"2001","journal-title":"J Med Genet"},{"key":"10.1016\/j.cca.2009.09.016_bib31","doi-asserted-by":"crossref","first-page":"3343","DOI":"10.1210\/jc.85.9.3343","article-title":"A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred","volume":"85","author":"Mumm","year":"2000","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.cca.2009.09.016_bib32","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1006\/geno.2000.6326","article-title":"Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda","volume":"69","author":"G\u00e9cz","year":"2000","journal-title":"Genomics"},{"key":"10.1016\/j.cca.2009.09.016_bib33","doi-asserted-by":"crossref","first-page":"E478","DOI":"10.1097\/01.BRS.0000096667.50789.95","article-title":"X-linked spondyloepiphyseal dysplasia tarda: molecular cause of a heritable platyspondyly","volume":"28","author":"Fiedler","year":"2003","journal-title":"Spine"}],"container-title":["Clinica Chimica Acta"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898109004835?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898109004835?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,12,16]],"date-time":"2018-12-16T17:57:19Z","timestamp":1544983039000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0009898109004835"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,12]]},"references-count":33,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2009,12]]}},"alternative-id":["S0009898109004835"],"URL":"https:\/\/doi.org\/10.1016\/j.cca.2009.09.016","relation":{},"ISSN":["0009-8981"],"issn-type":[{"type":"print","value":"0009-8981"}],"subject":[],"published":{"date-parts":[[2009,12]]}}}