{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T20:13:58Z","timestamp":1787170438660,"version":"build-2736575974"},"reference-count":29,"publisher":"SAGE Publications","issue":"8","license":[{"start":{"date-parts":[[2014,8,1]],"date-time":"2014-08-01T00:00:00Z","timestamp":1406851200000},"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":[[2014,8]]},"DOI":"10.1089\/gtmb.2014.0002","type":"journal-article","created":{"date-parts":[[2014,8,4]],"date-time":"2014-08-04T16:47:57Z","timestamp":1407170877000},"page":"546-551","source":"Crossref","is-referenced-by-count":17,"title":["Subtle Mutation Detection of\n                    <i>SMN1<\/i>\n                    Gene in Chinese Spinal Muscular Atrophy Patients: Implication of Molecular Diagnostic Procedure for\n                    <i>SMN1<\/i>\n                    Gene Mutations"],"prefix":"10.1177","volume":"18","author":[{"given":"Jin-Li","family":"Bai","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu-Jin","family":"Qu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan-Yan","family":"Cao","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ee-Zhen","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Neurology, Children's Hospital Affiliated Capital Institute of Pediatrics, Beijing, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li-Wen","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Children's Hospital Affiliated Capital Institute of Pediatrics, Beijing, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan-Li","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of Neurology, Children's Hospital Affiliated Capital Institute of Pediatrics, Beijing, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen-Hui","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu-Wei","family":"Jin","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fang","family":"Song","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China."}],"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":"10.1007\/s00439-007-0455-7"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1996.0147"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20092"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.5.821"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2012.12.109"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31803d35bc"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-004-0204-1"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2011.74"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90460-3"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.4238\/2013.September.13.4"},{"key":"B12","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(08)60921-6"},{"key":"B13","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0681-y"},{"key":"B14","first-page":"423","volume-title":"International SMA consortium meeting","volume":"2","author":"Munsat TL","year":"1992"},{"key":"B15","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.8.674"},{"key":"B16","doi-asserted-by":"publisher","DOI":"10.1086\/302160"},{"key":"B17","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.15.6.409"},{"key":"B18","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-008-0929-0"},{"key":"B19","first-page":"86","volume":"13","author":"Qu YJ","year":"2012","journal-title":"BMC Med Genet"},{"key":"B20","first-page":"385","volume":"134","author":"Qu YJ","year":"2011","journal-title":"Chin Med J"},{"key":"B21","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0049595"},{"key":"B22","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20111"},{"key":"B23","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.116"},{"key":"B24","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(01)00574-3"},{"key":"B25","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(95)90732-7"},{"key":"B26","doi-asserted-by":"publisher","DOI":"10.1002\/elps.201000124"},{"key":"B27","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200003)15:3<228::AID-HUMU3>3.0.CO;2-9"},{"key":"B28","doi-asserted-by":"publisher","DOI":"10.1086\/302369"},{"key":"B29","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2010.11.009"}],"container-title":["Genetic Testing and Molecular Biomarkers"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.liebertpub.com\/doi\/full-xml\/10.1089\/gtmb.2014.0002","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.liebertpub.com\/doi\/pdf\/10.1089\/gtmb.2014.0002","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T07:23:49Z","timestamp":1777447429000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/full\/10.1089\/gtmb.2014.0002"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,8]]},"references-count":29,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2014,8]]}},"alternative-id":["10.1089\/gtmb.2014.0002"],"URL":"https:\/\/doi.org\/10.1089\/gtmb.2014.0002","relation":{},"ISSN":["1945-0265","1945-0257"],"issn-type":[{"value":"1945-0265","type":"print"},{"value":"1945-0257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,8]]}}}