{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T00:47:54Z","timestamp":1790729274708,"version":"4.1.0"},"reference-count":26,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2022,5,1]],"date-time":"2022-05-01T00:00:00Z","timestamp":1651363200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,5,1]],"date-time":"2022-05-01T00:00:00Z","timestamp":1651363200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,2,9]],"date-time":"2024-02-09T00:00:00Z","timestamp":1707436800000},"content-version":"am","delay-in-days":649,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,5,1]],"date-time":"2022-05-01T00:00:00Z","timestamp":1651363200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2022,5,1]],"date-time":"2022-05-01T00:00:00Z","timestamp":1651363200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2022,5,1]],"date-time":"2022-05-01T00:00:00Z","timestamp":1651363200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2022,5,1]],"date-time":"2022-05-01T00:00:00Z","timestamp":1651363200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2022,5,1]],"date-time":"2022-05-01T00:00:00Z","timestamp":1651363200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP20fk0410017"],"award-info":[{"award-number":["JP20fk0410017"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100018117","name":"Aichi Health Promotion Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100018117","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001700","name":"Ministry of Education, Culture, Sports, Science and Technology","doi-asserted-by":"publisher","award":["17H05073"],"award-info":[{"award-number":["17H05073"]}],"id":[{"id":"10.13039\/501100001700","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001700","name":"Ministry of Education, Culture, Sports, Science and Technology","doi-asserted-by":"publisher","award":["19K08853"],"award-info":[{"award-number":["19K08853"]}],"id":[{"id":"10.13039\/501100001700","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare","doi-asserted-by":"publisher","award":["2017-012"],"award-info":[{"award-number":["2017-012"]}],"id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare","doi-asserted-by":"publisher","award":["JP17fk0410306"],"award-info":[{"award-number":["JP17fk0410306"]}],"id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007312","name":"National Center for Geriatrics and Gerontology","doi-asserted-by":"publisher","award":["30-11"],"award-info":[{"award-number":["30-11"]}],"id":[{"id":"10.13039\/501100007312","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","thrombosisresearch.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Thrombosis Research"],"published-print":{"date-parts":[[2022,5]]},"DOI":"10.1016\/j.thromres.2022.03.010","type":"journal-article","created":{"date-parts":[[2022,3,15]],"date-time":"2022-03-15T03:15:53Z","timestamp":1647314153000},"page":"91-96","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"special_numbering":"C","title":["F9 mRNA splicing aberration due to a deep Intronic structural variation in a patient with moderate hemophilia B"],"prefix":"10.1016","volume":"213","author":[{"given":"Koya","family":"Odaira","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fumika","family":"Kawashima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shogo","family":"Tamura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobuaki","family":"Suzuki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahiru","family":"Tokoro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuri","family":"Hayakawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atsuo","family":"Suzuki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takeshi","family":"Kanematsu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuichi","family":"Okamoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akira","family":"Takagi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akira","family":"Katsumi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tadashi","family":"Matsushita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Midori","family":"Shima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keiji","family":"Nogami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tetsuhito","family":"Kojima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fumihiko","family":"Hayakawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"10040","key":"10.1016\/j.thromres.2022.03.010_bb0005","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/S0140-6736(15)01123-X","article-title":"The past and future of haemophilia: diagnosis, treatments, and its complications","volume":"388","author":"Peyvandi","year":"2016","journal-title":"Lancet"},{"issue":"14","key":"10.1016\/j.thromres.2022.03.010_bb0010","doi-asserted-by":"crossref","first-page":"3736","DOI":"10.1021\/bi00335a049","article-title":"Nucleotide sequence of the gene for human factor IX (antihemophilic factor B)","volume":"24","author":"Yoshitake","year":"1985","journal-title":"Biochemistry"},{"key":"10.1016\/j.thromres.2022.03.010_bb0015","unstructured":"CDC Hemophilia Mutation Project (CHAMP & CHBMP). https:\/\/www.cdc.gov\/ncbddd\/hemophilia\/champs.html."},{"key":"10.1016\/j.thromres.2022.03.010_bb0020","unstructured":"EAHD Factor IX Gene (F9) Variant Database. https:\/\/f9-db.eahad.org\/index.php."},{"issue":"9","key":"10.1016\/j.thromres.2022.03.010_bb0025","doi-asserted-by":"crossref","first-page":"1093","DOI":"10.1007\/s00439-017-1809-4","article-title":"Deep intronic mutations and human disease","volume":"136","author":"Vaz-Drago","year":"2017","journal-title":"Hum. Genet."},{"issue":"4","key":"10.1016\/j.thromres.2022.03.010_bb0030","doi-asserted-by":"crossref","first-page":"766","DOI":"10.1046\/j.1365-2141.1999.01767.x","article-title":"Creation of a novel donor splice site in intron 1 of the factor VIII gene leads to activation of a 191 bp cryptic exon in two haemophilia A patients","volume":"107","author":"Bagnall","year":"1999","journal-title":"Br. J. Haematol."},{"issue":"8","key":"10.1016\/j.thromres.2022.03.010_bb0035","doi-asserted-by":"crossref","first-page":"1541","DOI":"10.1111\/j.1538-7836.2011.04408.x","article-title":"Deep intronic variations may cause mild hemophilia A","volume":"9","author":"Castaman","year":"2011","journal-title":"J. Thromb. Haemost."},{"issue":"1","key":"10.1016\/j.thromres.2022.03.010_bb0040","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1111\/j.1365-2516.2012.02906.x","article-title":"Identification and characterization of an adenine to guanine transition within intron 10 of the factor VIII gene as a causative mutation in a patient with mild haemophilia a","volume":"19","author":"Inaba","year":"2013","journal-title":"Haemophilia"},{"issue":"9","key":"10.1016\/j.thromres.2022.03.010_bb0045","doi-asserted-by":"crossref","first-page":"1679","DOI":"10.1111\/jth.12339","article-title":"Deep intronic 'mutations' cause hemophilia a: application of next generation sequencing in patients without detectable mutation in F8 cDNA","volume":"11","author":"Pezeshkpoor","year":"2013","journal-title":"J. Thromb. Haemost."},{"issue":"1","key":"10.1016\/j.thromres.2022.03.010_bb0050","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1111\/ejh.13242","article-title":"Deep intronic variant c.5999-277G>a of F8 gene may be a hot spot mutation for mild hemophilia a patients without mutation in exonic DNA","volume":"103","author":"Chang","year":"2019","journal-title":"Eur. J. Haematol."},{"issue":"3","key":"10.1016\/j.thromres.2022.03.010_bb0055","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1002\/(SICI)1098-1004(1999)14:3<267::AID-HUMU11>3.0.CO;2-I","article-title":"Deep intronic mutations are rarely a cause of hemophilia B","volume":"14","author":"Feng","year":"1999","journal-title":"Hum. Mutat."},{"issue":"5","key":"10.1016\/j.thromres.2022.03.010_bb0060","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1055\/s-0040-1721385","article-title":"Spectrum of F8 Genotype and Genetic Impact on Inhibitor Development in Patients with Hemophilia A from Multicenter Cohort Studies (J-HIS) in Japan","volume":"121","author":"Shinozawa","year":"2021","journal-title":"Thromb Haemost"},{"issue":"1","key":"10.1016\/j.thromres.2022.03.010_bb0065","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1182\/blood.V69.1.349.349","article-title":"Possible absence of common polymorphisms in coagulation factor IX gene in japanese subjects","volume":"69","author":"Kojima","year":"1987","journal-title":"Blood"},{"key":"10.1016\/j.thromres.2022.03.010_bb0070","unstructured":"Human Genome Variation Society. http:\/\/www.hgvs.org\/mutnomen\/."},{"key":"10.1016\/j.thromres.2022.03.010_bb0075","unstructured":"Splicing site Site prediction Prediction. https:\/\/www.fruitfly.org\/seq_tools\/splice.html."},{"key":"10.1016\/j.thromres.2022.03.010_bb0080","unstructured":"Netgene2. http:\/\/www.cbs.dtu.dk\/services\/NetGene2."},{"key":"10.1016\/j.thromres.2022.03.010_bb0085","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/j.thromres.2019.04.022","article-title":"Apparent synonymous mutation F9 c.87A>G causes secretion failure by in-frame mutation with aberrant splicing","volume":"179","author":"Odaira","year":"2019","journal-title":"Thromb. Res."},{"key":"10.1016\/j.thromres.2022.03.010_bb0090","unstructured":"Acetone precipitation of proteins, Tech Tip #49. https:\/\/tools.thermofisher.com\/content\/sfs\/brochures\/TR0049-Acetone-precipitation.pdf?CID=Social_LAB."},{"issue":"2","key":"10.1016\/j.thromres.2022.03.010_bb0095","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1086\/301952","article-title":"A novel alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy","volume":"63","author":"Ferlini","year":"1998","journal-title":"Am. J. Hum. Genet."},{"issue":"1","key":"10.1016\/j.thromres.2022.03.010_bb0100","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1002\/humu.20806","article-title":"Characterization of a complex duchenne muscular dystrophy-causing dystrophin gene inversion and restoration of the reading frame by induced exon skipping","volume":"30","author":"Madden","year":"2009","journal-title":"Hum. Mutat."},{"issue":"3","key":"10.1016\/j.thromres.2022.03.010_bb0105","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1016\/j.nmd.2010.11.008","article-title":"Duchenne muscular dystrophy caused by a complex rearrangement between intron 43 of the DMD gene and chromosome 4","volume":"21","author":"Baskin","year":"2011","journal-title":"Neuromuscul. Disord."},{"issue":"4","key":"10.1016\/j.thromres.2022.03.010_bb0110","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1002\/humu.21471","article-title":"Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations?","volume":"32","author":"Khelifi","year":"2011","journal-title":"Hum. Mutat."},{"issue":"3","key":"10.1016\/j.thromres.2022.03.010_bb0115","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1089\/cmb.1997.4.311","article-title":"Improved splice site detection in genie","volume":"4","author":"Reese","year":"1997","journal-title":"J. Comput. Biol."},{"issue":"1","key":"10.1016\/j.thromres.2022.03.010_bb0120","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/0022-2836(91)90380-O","article-title":"Prediction of human mRNA donor and acceptor sites from the DNA sequence","volume":"220","author":"Brunak","year":"1991","journal-title":"J. Mol. Biol."},{"issue":"1","key":"10.1016\/j.thromres.2022.03.010_bb0125","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1002\/humu.23680","article-title":"Disease-causing variants of the conserved +2T of 5' splice sites can be rescued by engineered U1snRNAs","volume":"40","author":"Scalet","year":"2019","journal-title":"Hum. Mutat."},{"issue":"3","key":"10.1016\/j.thromres.2022.03.010_bb0130","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1016\/j.ceb.2005.04.014","article-title":"Promoter usage and alternative splicing","volume":"17","author":"Kornblihtt","year":"2005","journal-title":"Curr. Opin. Cell Biol."}],"container-title":["Thrombosis Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0049384822000871?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0049384822000871?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,24]],"date-time":"2025-09-24T17:47:55Z","timestamp":1758736075000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0049384822000871"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,5]]},"references-count":26,"alternative-id":["S0049384822000871"],"URL":"https:\/\/doi.org\/10.1016\/j.thromres.2022.03.010","relation":{},"ISSN":["0049-3848"],"issn-type":[{"value":"0049-3848","type":"print"}],"subject":[],"published":{"date-parts":[[2022,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"F9 mRNA splicing aberration due to a deep Intronic structural variation in a patient with moderate hemophilia B","name":"articletitle","label":"Article Title"},{"value":"Thrombosis Research","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.thromres.2022.03.010","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}