{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,3]],"date-time":"2024-07-03T16:52:50Z","timestamp":1720025570106},"reference-count":10,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2015,3,1]],"date-time":"2015-03-01T00:00:00Z","timestamp":1425168000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"name":"Graduate Student Innovation Fund","award":["2013E-CX08"],"award-info":[{"award-number":["2013E-CX08"]}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinica Chimica Acta"],"published-print":{"date-parts":[[2015,3]]},"DOI":"10.1016\/j.cca.2015.01.019","type":"journal-article","created":{"date-parts":[[2015,1,28]],"date-time":"2015-01-28T01:17:25Z","timestamp":1422407845000},"page":"84-86","update-policy":"http:\/\/dx.doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"special_numbering":"C","title":["An unclassified viariant in the fibrillin-1 gene leading to exon skipping in a patient with Marfan syndrome: The use of minigene assay in splicing analysis"],"prefix":"10.1016","volume":"442","author":[{"given":"Yan","family":"Xiao","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kun-Qi","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xian-Liang","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu-Qi","family":"Shen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chao-Xia","family":"Lu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xue","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.cca.2015.01.019_bb0005","doi-asserted-by":"crossref","first-page":"1382","DOI":"10.1136\/heartjnl-2013-304709","article-title":"Diagnosis and treatment of Marfan syndrome: an update","volume":"100","author":"Radke","year":"2014","journal-title":"Heart"},{"key":"10.1016\/j.cca.2015.01.019_bb0010","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1086\/520125","article-title":"Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study","volume":"81","author":"Faivre","year":"2007","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.cca.2015.01.019_bb0015","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1016\/j.molmed.2012.06.006","article-title":"Pre-mRNA splicing in disease and therapeutics","volume":"18","author":"Singh","year":"2012","journal-title":"Trends Mol Med"},{"key":"10.1016\/j.cca.2015.01.019_bb0020","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1111\/j.1399-0004.2011.01781.x","article-title":"Systematic screening of FBN1 gene unclassified missense variants for splice abnormalities","volume":"82","author":"Robinson","year":"2012","journal-title":"Clin Genet"},{"key":"10.1016\/j.cca.2015.01.019_bb0025","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1111\/j.1399-0004.2009.01337.x","article-title":"Novel exon nucleotide substitution at the splice junction causes a neonatal Marfan syndrome","volume":"77","author":"Chao","year":"2010","journal-title":"Clin Genet"},{"key":"10.1016\/j.cca.2015.01.019_bb0030","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1016\/j.ejmg.2010.06.002","article-title":"A single heterozygous nucleotide substitution displays two different altered mechanisms in the FBN1 gene of five Italian Marfan patients","volume":"53","author":"Evangelisti","year":"2010","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.cca.2015.01.019_bb0035","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1007\/978-1-60761-759-4_15","article-title":"Use of splicing reporter minigene assay to evaluate the effect on splicing of unclassified genetic variants","volume":"653","author":"Gaildrat","year":"2010","journal-title":"Methods Mol Biol"},{"key":"10.1016\/j.cca.2015.01.019_bb0040","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/j.cca.2014.09.034","article-title":"Next generation sequencing as a rapid molecular diagnosis for Marfan syndrome in a Chinese family with mutations in the fibrillin-1 gene","volume":"439","author":"Xiao","year":"2015","journal-title":"Clin Chim Acta"},{"key":"10.1016\/j.cca.2015.01.019_bb0045","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1002\/path.2649","article-title":"The pathobiology of splicing","volume":"220","author":"Ward","year":"2010","journal-title":"J Pathol"},{"key":"10.1016\/j.cca.2015.01.019_bb0050","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1016\/j.cell.2009.02.010","article-title":"RNA-based therapeutics: ready for delivery?","volume":"136","author":"Bonetta","year":"2009","journal-title":"Cell"}],"container-title":["Clinica Chimica Acta"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898115000418?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898115000418?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,8,29]],"date-time":"2020-08-29T11:08:54Z","timestamp":1598699334000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0009898115000418"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,3]]},"references-count":10,"alternative-id":["S0009898115000418"],"URL":"https:\/\/doi.org\/10.1016\/j.cca.2015.01.019","relation":{},"ISSN":["0009-8981"],"issn-type":[{"value":"0009-8981","type":"print"}],"subject":[],"published":{"date-parts":[[2015,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"An unclassified viariant in the fibrillin-1 gene leading to exon skipping in a patient with Marfan syndrome: The use of minigene assay in splicing analysis","name":"articletitle","label":"Article Title"},{"value":"Clinica Chimica Acta","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.cca.2015.01.019","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"simple-article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}