{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,5]],"date-time":"2026-03-05T23:57:35Z","timestamp":1772755055280,"version":"3.50.1"},"reference-count":22,"publisher":"Wiley","issue":"23","license":[{"start":{"date-parts":[[2014,10,9]],"date-time":"2014-10-09T00:00:00Z","timestamp":1412812800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Electrophoresis"],"published-print":{"date-parts":[[2014,12]]},"abstract":"<jats:p>A simple and precise diagnostic method for spinal muscular atrophy (SMA) using high\u2010resolution CE\u2010based single\u2010strand conformation polymorphism (CE\u2010SSCP) was developed in this study. SMA is a common genetic disorder caused by an abnormality in the relative copy numbers of <jats:italic>SMN1<\/jats:italic> and its centromeric copy <jats:italic>SMN2<\/jats:italic>, which differ only in two nucleotides, namely at exons 7 and 8. Therefore, the precise discrimination of the differences in sequence as well as their relative quantities is crucial for the diagnosis of SMA. Multiplex ligation\u2010dependent probe amplification and sequence\u2010sensitive DNA separation using hydroxyethyl cellulose and hydroxypropyl cellulose blended polymer matrix are currently the available methods used in the diagnosis of SMA. However, these methods are limited by their extended hybridization step and low resolution. In this study, the simultaneous discrimination of <jats:italic>SMN<\/jats:italic> exons 7 and 8 was successfully demonstrated using high\u2010resolution CE\u2010SSCP. Unlike the previously reported alternative method, single base differing amplicons were baseline\u2010separated because of its extraordinary resolution, thus providing accurate and precise quantification of each paralog.<\/jats:p>","DOI":"10.1002\/elps.201400207","type":"journal-article","created":{"date-parts":[[2014,8,11]],"date-time":"2014-08-11T20:39:39Z","timestamp":1407789579000},"page":"3402-3407","source":"Crossref","is-referenced-by-count":5,"title":["A simple and precise diagnostic method for spinal muscular atrophy using a quantitative SNP analysis system"],"prefix":"10.1002","volume":"35","author":[{"given":"Hee Sung","family":"Hwang","sequence":"first","affiliation":[{"name":"School of Interdisciplinary Bioscience and Bioengineering Pohang University of Science and Technology  Pohang Gyeongbuk Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gi Won","family":"Shin","sequence":"additional","affiliation":[{"name":"Institute of Environmental and Energy Technology Pohang University of Science and Technology  Pohang Gyeongbuk Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gyu Yong","family":"Jung","sequence":"additional","affiliation":[{"name":"Department of Plastic Surgery College of Medicine, Dongguk University  Gyeongju Gyeongbuk Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gyoo Yeol","family":"Jung","sequence":"additional","affiliation":[{"name":"School of Interdisciplinary Bioscience and Bioengineering Pohang University of Science and Technology  Pohang Gyeongbuk Korea"},{"name":"Department of Chemical Engineering Pohang University of Science and Technology  Pohang Gyeongbuk Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,10,9]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/338627"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.7910982"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0828-x"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31803d35bc"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2008.08.015"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2011.06.002"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00216-010-3761-1"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073807305788"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12257-012-0139-6"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gki358"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0021-9673(95)00127-9"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/elps.201000091"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/jssc.200900871"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-62703-029-8_15"},{"key":"e_1_2_7_16_1","first-page":"10.13.11","volume-title":"Current Protocols Essential Laboratory Techniques","author":"Dean F.","year":"2008"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkg595"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10086"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.5630906"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1021\/ac049385k"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gng061"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0305476101"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/19.2.405"}],"container-title":["ELECTROPHORESIS"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Felps.201400207","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/analyticalsciencejournals.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/elps.201400207","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,15]],"date-time":"2025-10-15T22:09:32Z","timestamp":1760566172000},"score":1,"resource":{"primary":{"URL":"https:\/\/analyticalsciencejournals.onlinelibrary.wiley.com\/doi\/10.1002\/elps.201400207"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,10,9]]},"references-count":22,"journal-issue":{"issue":"23","published-print":{"date-parts":[[2014,12]]}},"alternative-id":["10.1002\/elps.201400207"],"URL":"https:\/\/doi.org\/10.1002\/elps.201400207","archive":["Portico"],"relation":{},"ISSN":["0173-0835","1522-2683"],"issn-type":[{"value":"0173-0835","type":"print"},{"value":"1522-2683","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,10,9]]}}}