{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T03:43:32Z","timestamp":1788147812879,"version":"build-2803163510"},"reference-count":50,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2017,3,1]],"date-time":"2017-03-01T00:00:00Z","timestamp":1488326400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,3,2]],"date-time":"2018-03-02T00:00:00Z","timestamp":1519948800000},"content-version":"vor","delay-in-days":366,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease"],"published-print":{"date-parts":[[2017,3]]},"DOI":"10.1016\/j.bbadis.2016.12.010","type":"journal-article","created":{"date-parts":[[2016,12,24]],"date-time":"2016-12-24T12:53:11Z","timestamp":1482583991000},"page":"721-730","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":44,"title":["Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing"],"prefix":"10.1016","volume":"1863","author":[{"given":"Andr\u00e9 B.P.","family":"van Kuilenburg","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith","family":"Meijer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dirk","family":"Maurer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doreen","family":"Dobritzsch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rutger","family":"Meinsma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maartje","family":"Los","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lia C.","family":"Knegt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lida","family":"Zoetekouw","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rob L.H.","family":"Jansen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Dezentj\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lieke H.","family":"van Huis-Tanja","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roel J.W.","family":"van Kampen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jens Michael","family":"Hertz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raoul C.M.","family":"Hennekam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.bbadis.2016.12.010_bb0005","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1056\/NEJMra040958","article-title":"Systemic therapy for colorectal cancer","volume":"352","author":"Meyerhardt","year":"2005","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.bbadis.2016.12.010_bb0010","doi-asserted-by":"crossref","first-page":"2696","DOI":"10.1056\/NEJMoa043116","article-title":"Capecitabine as adjuvant treatment for stage III colon cancer","volume":"352","author":"Twelves","year":"2005","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.bbadis.2016.12.010_bb0015","doi-asserted-by":"crossref","first-page":"3109","DOI":"10.1200\/JCO.2008.20.6771","article-title":"Improved overall survival with oxaliplatin, fluorouracil, and leucovorin as adjuvant treatment in stage II or III colon cancer in the MOSAIC trial","volume":"27","author":"Andre","year":"2009","journal-title":"J. Clin. Oncol."},{"key":"10.1016\/j.bbadis.2016.12.010_bb0020","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1097\/CCO.0b013e3283479c83","article-title":"Adjuvant treatment of colon cancer: what is next?","volume":"23","author":"Van Loon","year":"2011","journal-title":"Curr. Opin. Oncol."},{"key":"10.1016\/j.bbadis.2016.12.010_bb0025","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1016\/S0065-2571(00)00011-X","article-title":"Importance of dihydropyrimidine dehydrogenase (DPD) deficiency in patients exhibiting toxicity following treatment with 5-fluorouracil","volume":"41","author":"Johnson","year":"2001","journal-title":"Adv. Enzym. Regul."},{"key":"10.1016\/j.bbadis.2016.12.010_bb0030","doi-asserted-by":"crossref","first-page":"939","DOI":"10.1016\/j.ejca.2003.12.004","article-title":"Dihydropyrimidine dehydrogenase and the efficacy and toxicity of 5-fluorouracil","volume":"40","author":"van Kuilenburg","year":"2004","journal-title":"Eur. J. Cancer"},{"key":"10.1016\/j.bbadis.2016.12.010_bb0035","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1007\/BF03257473","article-title":"Evaluation of 5-fluorouracil pharmacokinetics in cancer patients with a c.1905+1G>A mutation in DPYD by means of a Bayesian limited sampling strategy","volume":"51","author":"van Kuilenburg","year":"2012","journal-title":"Clin. Pharmacokinet."},{"key":"10.1016\/j.bbadis.2016.12.010_bb0040","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1038\/sj.bjc.6690098","article-title":"Dihydropyrimidine dehydrogenase deficiency and fluorouracil-related toxicity","volume":"79","author":"Milano","year":"1999","journal-title":"Br. J. Cancer"},{"key":"10.1016\/j.bbadis.2016.12.010_bb0045","doi-asserted-by":"crossref","first-page":"2505","DOI":"10.1038\/bjc.2013.262","article-title":"Pharmacogenetic variants in the DPYD, TYMS, CDA and MTHFR genes are clinically significant predictors of fluoropyrimidine toxicity","volume":"108","author":"Loganayagam","year":"2013","journal-title":"Br. J. Cancer"},{"key":"10.1016\/j.bbadis.2016.12.010_bb0050","doi-asserted-by":"crossref","first-page":"730","DOI":"10.1002\/ijc.29025","article-title":"Clinical importance of risk variants in the dihydropyrimidine dehydrogenase gene for the prediction of early-onset fluoropyrimidine toxicity","volume":"136","author":"Froehlich","year":"2015","journal-title":"Int. J. Cancer"},{"key":"10.1016\/j.bbadis.2016.12.010_bb0055","doi-asserted-by":"crossref","first-page":"662","DOI":"10.1038\/clpt.2011.34","article-title":"Pharmacogenetics: from bench to byte-an update of guidelines","volume":"89","author":"Swen","year":"2011","journal-title":"Clin. Pharmacol. Ther."},{"key":"10.1016\/j.bbadis.2016.12.010_bb0060","doi-asserted-by":"crossref","first-page":"640","DOI":"10.1038\/clpt.2013.172","article-title":"Clinical Pharmacogenetics Implementation Consortium guidelines for dihydropyrimidine dehydrogenase genotype and fluoropyrimidine dosing","volume":"94","author":"Caudle","year":"2013","journal-title":"Clin. Pharmacol. Ther."},{"key":"10.1016\/j.bbadis.2016.12.010_bb0065","doi-asserted-by":"crossref","first-page":"1255","DOI":"10.2217\/pgs.13.116","article-title":"DPYD IVS14+1G>A and 2846A>T genotyping for the prediction of severe fluoropyrimidine-related toxicity: a meta-analysis","volume":"14","author":"Terrazzino","year":"2013","journal-title":"Pharmacogenomics"},{"key":"10.1016\/j.bbadis.2016.12.010_bb0070","doi-asserted-by":"crossref","first-page":"1031","DOI":"10.1200\/JCO.2013.51.1857","article-title":"Genetic markers of toxicity from capecitabine and other fluorouracil-based regimens: investigation in the QUASAR2 study, systematic review, and meta-analysis","volume":"32","author":"Rosmarin","year":"2014","journal-title":"J. Clin. Oncol."},{"key":"10.1016\/j.bbadis.2016.12.010_bb0075","doi-asserted-by":"crossref","DOI":"10.1093\/jnci\/dju298","article-title":"DPYD variants as predictors of 5-fluorouracil toxicity in adjuvant colon cancer treatment(NCCTG N0147)","volume":"106","author":"Lee","year":"2014","journal-title":"J. Natl. Cancer Inst."},{"key":"10.1016\/j.bbadis.2016.12.010_bb0080","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1007\/s00439-010-0879-3","article-title":"Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicity","volume":"128","author":"van Kuilenburg","year":"2010","journal-title":"Hum. Genet."},{"key":"10.1016\/j.bbadis.2016.12.010_bb0085","doi-asserted-by":"crossref","first-page":"1639","DOI":"10.1016\/S1470-2045(15)00286-7","article-title":"Clinical relevance of DPYD variants c.1679T>G, c.1236G>A\/HapB3, and c.1601G>A as predictors of severe fluoropyrimidine-associated toxicity: a systematic review and meta-analysis of individual patient data","volume":"16","author":"Meulendijks","year":"2015","journal-title":"Lancet Oncol."},{"key":"10.1016\/j.bbadis.2016.12.010_bb0090","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1200\/JCO.2015.63.1325","article-title":"Upfront genotyping of DPYD*2A to individualize fluoropyrimidine therapy: a safety and cost analysis","volume":"34","author":"Deenen","year":"2016","journal-title":"J. Clin. Oncol."},{"key":"10.1016\/j.bbadis.2016.12.010_bb0095","doi-asserted-by":"crossref","first-page":"2895","DOI":"10.1158\/1535-7163.MCT-06-0327","article-title":"Clinical relevance of different dihydropyrimidine dehydrogenase gene single nucleotide polymorphisms on 5-fluorouracil tolerance","volume":"5","author":"Morel","year":"2006","journal-title":"Mol. Cancer Ther."},{"key":"10.1016\/j.bbadis.2016.12.010_bb0100","doi-asserted-by":"crossref","first-page":"2131","DOI":"10.1200\/JCO.2006.10.4182","article-title":"Role of genetic and nongenetic factors for fluorouracil treatment-related severe toxicity: a prospective clinical trial by the German 5-FU toxicity study group","volume":"26","author":"Schwab","year":"2008","journal-title":"J. Clin. Oncol."},{"key":"10.1016\/j.bbadis.2016.12.010_bb0105","doi-asserted-by":"crossref","first-page":"3455","DOI":"10.1158\/1078-0432.CCR-10-2209","article-title":"Relationship between single nucleotide polymorphisms and haplotypes in DPYD and toxicity and efficacy of capecitabine in advanced colorectal cancer","volume":"17","author":"Deenen","year":"2011","journal-title":"Clin. Cancer Res."},{"key":"10.1016\/j.bbadis.2016.12.010_bb0110","doi-asserted-by":"crossref","first-page":"2545","DOI":"10.1158\/0008-5472.CAN-13-2482","article-title":"Comparative functional analysis of DPYD variants of potential clinical relevance to dihydropyrimidine dehydrogenase activity","volume":"74","author":"Offer","year":"2014","journal-title":"Cancer Res."},{"key":"10.1016\/j.bbadis.2016.12.010_bb0115","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1038\/tpj.2013.25","article-title":"Evaluation of predictive tests for screening for dihydropyrimidine dehydrogenase deficiency","volume":"13","author":"van Staveren","year":"2013","journal-title":"Pharmacogenomics J."},{"key":"10.1016\/j.bbadis.2016.12.010_bb0120","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1007\/s00439-009-0653-6","article-title":"Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3)","volume":"125","author":"van Kuilenburg","year":"2009","journal-title":"Hum. Genet."},{"key":"10.1016\/j.bbadis.2016.12.010_bb0125","doi-asserted-by":"crossref","first-page":"754","DOI":"10.1016\/j.bbadis.2016.01.009","article-title":"Phenotypic and clinical implications of variants in the dihydropyrimidine dehydrogenase gene","volume":"1862","author":"van Kuilenburg","year":"2016","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.bbadis.2016.12.010_bb0130","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1093\/clinchem\/46.1.9","article-title":"Pitfalls in the diagnosis of patients with a partial dihydropyrimidine dehydrogenase deficiency","volume":"46","author":"van Kuilenburg","year":"2000","journal-title":"Clin. Chem."},{"key":"10.1016\/j.bbadis.2016.12.010_bb0135","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1093\/emboj\/20.4.650","article-title":"Crystal structure of dihydropyrimidine dehydrogenase, a major determinant of the pharmacokinetics of the anti-cancer drug 5-fluorouracil","volume":"20","author":"Dobritzsch","year":"2001","journal-title":"EMBO J."},{"key":"10.1016\/j.bbadis.2016.12.010_bb0140","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1107\/S0907444910007493","article-title":"Features and development of Coot","volume":"66","author":"Emsley","year":"2010","journal-title":"Acta Crystallogr. D Biol. Crystallogr."},{"key":"10.1016\/j.bbadis.2016.12.010_bb0145","series-title":"The PyMOL Molecular Graphics System","author":"DeLano","year":"2002"},{"key":"10.1016\/j.bbadis.2016.12.010_bb0150","first-page":"4705","article-title":"Clinical implications of dihydropyrimidine dehydrogenase (DPD) deficiency in patients with severe 5-fluorouracil-associated toxicity: identification of new mutations in the DPD gene","volume":"6","author":"van Kuilenburg","year":"2000","journal-title":"Clin. Cancer Res."},{"key":"10.1016\/j.bbadis.2016.12.010_bb0155","series-title":"Cancer Drug Discovery and Development: Deoxynucleoside Analogs in Cancer Therapy","first-page":"289","article-title":"Nucleoside radiosensitizers","author":"Shewach","year":"2006"},{"key":"10.1016\/j.bbadis.2016.12.010_bb0160","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1269\/jrr.11190","article-title":"Effects of depletion of dihydropyrimidine dehydrogenase on focus formation and RPA phosphorylation","volume":"53","author":"Someya","year":"2012","journal-title":"J. Radiat. Res."},{"key":"10.1016\/j.bbadis.2016.12.010_bb0165","doi-asserted-by":"crossref","DOI":"10.1001\/jamaoncol.2015.5392","article-title":"DPYD genotyping to predict adverse events following treatment with flourouracil-based adjuvant chemotherapy in patients with stage III colon cancer: a secondary analysis of the PETACC-8 randomized clinical trial","author":"Boige","year":"2016","journal-title":"JAMA Oncol."},{"key":"10.1016\/j.bbadis.2016.12.010_bb0170","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1016\/j.canlet.2006.02.004","article-title":"FRA1E common fragile site breaks map within a 370kilobase pair region and disrupt the dihydropyrimidine dehydrogenase gene (DPYD)","volume":"246","author":"Hormozian","year":"2007","journal-title":"Cancer Lett."},{"key":"10.1016\/j.bbadis.2016.12.010_bb0175","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1111\/j.1399-0004.2010.01578.x","article-title":"Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder","volume":"80","author":"Carter","year":"2011","journal-title":"Clin. Genet."},{"key":"10.1016\/j.bbadis.2016.12.010_bb0180","first-page":"1665","article-title":"A discovery resource of rare copy number variations in individuals with autism spectrum disorder","volume":"2","author":"Prasad","year":"2012"},{"key":"10.1016\/j.bbadis.2016.12.010_bb0185","doi-asserted-by":"crossref","first-page":"810","DOI":"10.1136\/jmedgenet-2011-100294","article-title":"Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability","volume":"48","author":"Willemsen","year":"2011","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.bbadis.2016.12.010_bb0190","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1159\/000371600","article-title":"Two new cases of 1p21.3 deletions and an unbalanced translocation t(8;12) among individuals with syndromic obesity","volume":"6","author":"D'Angelo","year":"2015","journal-title":"Mol. Syndromol."},{"key":"10.1016\/j.bbadis.2016.12.010_bb0195","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0072381","article-title":"Genome-wide copy number variation in sporadic amyotrophic lateral sclerosis in the Turkish population: deletion of EPHA3 is a possible protective factor","volume":"8","author":"Uyan","year":"2013","journal-title":"PLoS One"},{"key":"10.1016\/j.bbadis.2016.12.010_bb0200","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1038\/tpj.2014.68","article-title":"Frequent intragenic rearrangements of DPYD in colorectal tumours","volume":"15","author":"van Kuilenburg","year":"2015","journal-title":"Pharmacogenomics J."},{"key":"10.1016\/j.bbadis.2016.12.010_bb0205","doi-asserted-by":"crossref","first-page":"1958","DOI":"10.1158\/0008-5472.CAN-12-3858","article-title":"Phenotypic profiling of DPYD variations relevant to 5-fluorouracil sensitivity using real-time cellular analysis and in vitro measurement of enzyme activity","volume":"73","author":"Offer","year":"2013","journal-title":"Cancer Res."},{"key":"10.1016\/j.bbadis.2016.12.010_bb0210","doi-asserted-by":"crossref","first-page":"1277","DOI":"10.2217\/pgs.15.70","article-title":"Translating DPYD genotype into DPD phenotype: using the DPYD gene activity score","volume":"16","author":"Henricks","year":"2015","journal-title":"Pharmacogenomics"},{"key":"10.1016\/j.bbadis.2016.12.010_bb0215","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1038\/clpt.2013.69","article-title":"A DPYD variant (Y186C) in individuals of African ancestry is associated with reduced DPD enzyme activity","volume":"94","author":"Offer","year":"2013","journal-title":"Clin. Pharmacol. Ther."},{"key":"10.1016\/j.bbadis.2016.12.010_bb0220","doi-asserted-by":"crossref","first-page":"931","DOI":"10.2217\/pgs.09.28","article-title":"Dihydropyrimidine dehydrogenase gene variation and severe 5-fluorouracil toxicity: a haplotype assessment","volume":"10","author":"Amstutz","year":"2009","journal-title":"Pharmacogenomics"},{"key":"10.1016\/j.bbadis.2016.12.010_bb0225","doi-asserted-by":"crossref","first-page":"742","DOI":"10.1158\/1535-7163.MCT-13-0878","article-title":"MicroRNAs miR-27a and miR-27b directly regulate liver dihydropyrimidine dehydrogenase expression through two conserved binding sites","volume":"13","author":"Offer","year":"2014","journal-title":"Mol. Cancer Ther."},{"key":"10.1016\/j.bbadis.2016.12.010_bb0230","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1111\/bcp.12790","article-title":"Beating the odds: efficacy and toxicity of dihydropyrimidine dehydrogenase-driven adaptive dosing of 5-FU in patients with digestive cancer","volume":"81","author":"Launay","year":"2016","journal-title":"Br. J. Clin. Pharmacol."},{"key":"10.1016\/j.bbadis.2016.12.010_bb0235","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1016\/j.canlet.2006.09.006","article-title":"5-Fluorouracil-related severe toxicity: a comparison of different methods for the pretherapeutic detection of dihydropyrimidine dehydrogenase deficiency","volume":"249","author":"Boisdron-Celle","year":"2007","journal-title":"Cancer Lett."},{"key":"10.1016\/j.bbadis.2016.12.010_bb0240","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1002\/cpt.210","article-title":"Genotyping of a family with a novel deleterious DPYD mutation supports the pretherapeutic screening of DPD deficiency with dihydrouracil\/uracil ratio","volume":"99","author":"Thomas","year":"2016","journal-title":"Clin. Pharmacol. Ther."},{"key":"10.1016\/j.bbadis.2016.12.010_bb0245","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1016\/j.ejca.2006.09.017","article-title":"Increased dihydropyrimidine dehydrogenase activity associated with mild toxicity in patients treated with 5-fluorouracil and leucovorin","volume":"43","author":"van Kuilenburg","year":"2007","journal-title":"Eur. J. Cancer"},{"key":"10.1016\/j.bbadis.2016.12.010_bb0250","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1002\/ijc.10599","article-title":"Increased risk of grade IV neutropenia after administration of 5-fluorouracil due to a dihydropyrimidine dehydrogenase deficiency: high prevalence of the IVS14+1g>a mutation","volume":"101","author":"van Kuilenburg","year":"2002","journal-title":"Int. J. Cancer"}],"container-title":["Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0925443916303465?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0925443916303465?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,6,21]],"date-time":"2024-06-21T11:45:55Z","timestamp":1718970355000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0925443916303465"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,3]]},"references-count":50,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2017,3]]}},"alternative-id":["S0925443916303465"],"URL":"https:\/\/doi.org\/10.1016\/j.bbadis.2016.12.010","relation":{},"ISSN":["0925-4439"],"issn-type":[{"value":"0925-4439","type":"print"}],"subject":[],"published":{"date-parts":[[2017,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing","name":"articletitle","label":"Article Title"},{"value":"Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.bbadis.2016.12.010","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 Elsevier B.V.","name":"copyright","label":"Copyright"}]}}