{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,13]],"date-time":"2026-09-13T04:59:53Z","timestamp":1789275593676,"version":"build-2803163510"},"reference-count":18,"publisher":"SAGE Publications","issue":"9","license":[{"start":{"date-parts":[[2011,9,1]],"date-time":"2011-09-01T00:00:00Z","timestamp":1314835200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.liebertpub.com\/nv\/resources-tools\/text-and-data-mining-policy\/121\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genetic Testing and Molecular Biomarkers"],"published-print":{"date-parts":[[2011,9]]},"DOI":"10.1089\/gtmb.2010.0253","type":"journal-article","created":{"date-parts":[[2011,5,6]],"date-time":"2011-05-06T20:37:58Z","timestamp":1304714278000},"page":"587-594","source":"Crossref","is-referenced-by-count":35,"title":["Accuracy of Marker Analysis, Quantitative Real-Time Polymerase Chain Reaction, and Multiple Ligation-Dependent Probe Amplification to Determine\n                    <i>SMN2<\/i>\n                    Copy Number in Patients with Spinal Muscular Atrophy"],"prefix":"10.1177","volume":"15","author":[{"given":"Laura","family":"Al\u00edas","sequence":"first","affiliation":[{"name":"Servicio de Gen\u00e9tica, Hospital de la Santa Creu i Sant Pau, CIBERER (U705), Barcelona, Spain."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Bernal","sequence":"additional","affiliation":[{"name":"Servicio de Gen\u00e9tica, Hospital de la Santa Creu i Sant Pau, CIBERER (U705), Barcelona, Spain."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria J.","family":"Barcel\u00f3","sequence":"additional","affiliation":[{"name":"Servicio de Gen\u00e9tica, Hospital de la Santa Creu i Sant Pau, CIBERER (U705), Barcelona, Spain."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Also-Rallo","sequence":"additional","affiliation":[{"name":"Servicio de Gen\u00e9tica, Hospital de la Santa Creu i Sant Pau, CIBERER (U705), Barcelona, Spain."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebeca","family":"Mart\u00ednez-Hern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Servicio de Gen\u00e9tica, Hospital de la Santa Creu i Sant Pau, CIBERER (U705), Barcelona, Spain."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisco J.","family":"Rodr\u00edguez-Alvarez","sequence":"additional","affiliation":[{"name":"Unidad de Gen\u00e9tica, Hospital Ram\u00f3n y Cajal, CIBERER (U728), Madrid, Spain."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Concepci\u00f3n","family":"Hern\u00e1ndez-Chico","sequence":"additional","affiliation":[{"name":"Unidad de Gen\u00e9tica, Hospital Ram\u00f3n y Cajal, CIBERER (U728), Madrid, Spain."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Montserrat","family":"Baiget","sequence":"additional","affiliation":[{"name":"Servicio de Gen\u00e9tica, Hospital de la Santa Creu i Sant Pau, CIBERER (U705), Barcelona, Spain."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduardo F.","family":"Tizzano","sequence":"additional","affiliation":[{"name":"Servicio de Gen\u00e9tica, Hospital de la Santa Creu i Sant Pau, CIBERER (U705), Barcelona, Spain."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-008-0598-1"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10221"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2006.08.011"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10144"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1007\/s004390000452"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-005-0912-y"},{"key":"B7","first-page":"1218","volume":"55","author":"DiDonato CJ","year":"1994","journal-title":"Am J Hum Genet"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.1086\/338627"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31803d35bc"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90460-3"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.1126\/science.7910982"},{"key":"B12","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.3.1215"},{"key":"B13","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20160"},{"key":"B14","doi-asserted-by":"publisher","DOI":"10.1016\/j.nurx.2006.01.010"},{"key":"B15","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2007.02.006"},{"key":"B16","first-page":"55","volume":"37","author":"Tomaszewicz K","year":"2005","journal-title":"Beijing Da Xue Xue Bao"},{"key":"B17","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-006-0156-7"},{"key":"B18","doi-asserted-by":"publisher","DOI":"10.1086\/302369"}],"container-title":["Genetic Testing and Molecular Biomarkers"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.liebertpub.com\/doi\/full-xml\/10.1089\/gtmb.2010.0253","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.liebertpub.com\/doi\/pdf\/10.1089\/gtmb.2010.0253","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T07:21:51Z","timestamp":1777447311000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/full\/10.1089\/gtmb.2010.0253"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,9]]},"references-count":18,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2011,9]]}},"alternative-id":["10.1089\/gtmb.2010.0253"],"URL":"https:\/\/doi.org\/10.1089\/gtmb.2010.0253","relation":{},"ISSN":["1945-0265","1945-0257"],"issn-type":[{"value":"1945-0265","type":"print"},{"value":"1945-0257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,9]]}}}