{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T04:02:18Z","timestamp":1774584138776,"version":"3.50.1"},"reference-count":26,"publisher":"Annals of Laboratory Medicine","issue":"6","license":[{"start":{"date-parts":[[2017,11,1]],"date-time":"2017-11-01T00:00:00Z","timestamp":1509494400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","award":["2013R1A1A1008888"],"award-info":[{"award-number":["2013R1A1A1008888"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003621","name":"Ministry of Science, ICT & Future Planning","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003621","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["annlabmed.org"],"crossmark-restriction":true},"short-container-title":["Ann Lab Med"],"published-print":{"date-parts":[[2017,11,1]]},"DOI":"10.3343\/alm.2017.37.6.516","type":"journal-article","created":{"date-parts":[[2017,8,28]],"date-time":"2017-08-28T22:54:53Z","timestamp":1503960893000},"page":"516-521","update-policy":"https:\/\/doi.org\/10.3343\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["A Unique Mutational Spectrum of <i>MLC1<\/i> in Korean Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: p.Ala275Asp Founder Mutation and Maternal Uniparental Disomy of Chromosome 22"],"prefix":"10.3343","volume":"37","author":[{"given":"Sun Ah","family":"Choi","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children\u2019s Hospital, Seoul National University College of Medicine, Seoul, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Soo Yeon","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children\u2019s Hospital, Seoul National University College of Medicine, Seoul, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jihoo","family":"Yoon","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joongmoon","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sung Sup","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea"},{"name":"Biomedical Research Institute, Seoul National University Hospital, Seoul, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Moon-Woo","family":"Seong","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea"},{"name":"Biomedical Research Institute, Seoul National University Hospital, Seoul, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hunmin","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seoul National University Bundang Hospital, Seongnam, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hee","family":"Hwang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seoul National University Bundang Hospital, Seongnam, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ji Eun","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seoul National University Boramae Medical Center, Seoul, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jong Hee","family":"Chae","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children\u2019s Hospital, Seoul National University College of Medicine, Seoul, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ki Joong","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children\u2019s Hospital, Seoul National University College of Medicine, Seoul, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seunghyo","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Jeju National University Hospital, Jeju National University School of Medicine, Jeju, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yun-Jin","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pusan National University Children\u2019s Hospital, Pusan National University College of Medicine, Yangsan, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sang Ook","family":"Nam","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pusan National University Children\u2019s Hospital, Pusan National University College of Medicine, Yangsan, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Byung Chan","family":"Lim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children\u2019s Hospital, Seoul National University College of Medicine, Seoul, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"27150","reference":[{"key":"10.3343\/alm.2017.37.6.516_ref1","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1002\/ana.410370308","volume":"37","author":"van der Knaap","year":"1995","journal-title":"Ann Neurol"},{"key":"10.3343\/alm.2017.37.6.516_ref2","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1016\/S0387-7604(98)00002-3","volume":"20","author":"Topcu","year":"1998","journal-title":"Brain Dev"},{"key":"10.3343\/alm.2017.37.6.516_ref3","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1086\/302758","volume":"66","author":"Top\u00e7u","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.3343\/alm.2017.37.6.516_ref4","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1086\/319519","volume":"68","author":"Leegwater","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.3343\/alm.2017.37.6.516_ref5","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1016\/S1474-4422(12)70192-8","volume":"11","author":"van der Knaap","year":"2012","journal-title":"Lancet Neurol"},{"key":"10.3343\/alm.2017.37.6.516_ref6","doi-asserted-by":"crossref","first-page":"3266","DOI":"10.1093\/hmg\/ddr238","volume":"20","author":"L\u00f3pez-Hern\u00e1ndez","year":"2011","journal-title":"Hum Mol Genet"},{"key":"10.3343\/alm.2017.37.6.516_ref7","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1007\/s00439-002-0682-x","volume":"110","author":"Leegwater","year":"2002","journal-title":"Hum Genet"},{"key":"10.3343\/alm.2017.37.6.516_ref8","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1002\/humu.20332","volume":"27","author":"Ilja Boor","year":"2006","journal-title":"Hum Mutat"},{"key":"10.3343\/alm.2017.37.6.516_ref9","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s00439-013-1358-4","volume":"133","author":"Stenson","year":"2014","journal-title":"Hum Genet"},{"key":"10.3343\/alm.2017.37.6.516_ref10","doi-asserted-by":"crossref","first-page":"878","DOI":"10.1212\/01.WNL.0000115106.88813.5B","volume":"62","author":"Gorospe","year":"2004","journal-title":"Neurology"},{"key":"10.3343\/alm.2017.37.6.516_ref11","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1007\/s00439-002-0770-y","volume":"111","author":"Ben-Zeev","year":"2002","journal-title":"Hum Genet"},{"key":"10.3343\/alm.2017.37.6.516_ref12","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1016\/j.pediatrneurol.2013.10.008","volume":"50","author":"Mahmoud","year":"2014","journal-title":"Pediatr Neurol"},{"key":"10.3343\/alm.2017.37.6.516_ref13","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1007\/s10038-003-0085-4","volume":"48","author":"Tsujino","year":"2003","journal-title":"J Hum Genet"},{"key":"10.3343\/alm.2017.37.6.516_ref14","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"10.3343\/alm.2017.37.6.516_ref15","volume-title":"Arlequin: a software for population genetics data analysis. User manual ver 2.000","author":"Schneider","year":"2000"},{"key":"10.3343\/alm.2017.37.6.516_ref16","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1086\/428594","volume":"76","author":"Stephens","year":"2005","journal-title":"Am J Hum Genet"},{"key":"10.3343\/alm.2017.37.6.516_ref17","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1002\/humu.9407","volume":"27","author":"Montagna","year":"2006","journal-title":"Hum Mutat"},{"key":"10.3343\/alm.2017.37.6.516_ref18","doi-asserted-by":"crossref","first-page":"14019","DOI":"10.1038\/hgv.2014.19","volume":"1","author":"Shimada","year":"2014","journal-title":"Hum Genome Var"},{"key":"10.3343\/alm.2017.37.6.516_ref19","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1016\/S0387-7604(03)00006-8","volume":"25","author":"Saijo","year":"2003","journal-title":"Brain Dev"},{"key":"10.3343\/alm.2017.37.6.516_ref20","doi-asserted-by":"crossref","first-page":"1757","DOI":"10.1093\/hmg\/4.suppl_1.1757","volume":"4","author":"Ledbetter","year":"1995","journal-title":"Hum Mol Genet"},{"key":"10.3343\/alm.2017.37.6.516_ref21","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1002\/ajmg.1320400411","volume":"40","author":"Engel","year":"1991","journal-title":"Am J Med Genet"},{"key":"10.3343\/alm.2017.37.6.516_ref22","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1007\/s00439-004-1105-y","volume":"114","author":"Zlotogora","year":"2004","journal-title":"Hum Genet"},{"key":"10.3343\/alm.2017.37.6.516_ref23","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1038\/jhg.2012.97","volume":"57","author":"Niida","year":"2012","journal-title":"J Hum Genet"},{"key":"10.3343\/alm.2017.37.6.516_ref24","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1016\/j.bcmd.2012.05.005","volume":"49","author":"Huang","year":"2012","journal-title":"Blood Cells Mol Dis"},{"key":"10.3343\/alm.2017.37.6.516_ref25","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1111\/j.1468-1331.2012.03856.x","volume":"20","author":"Zhang","year":"2013","journal-title":"Eur J Neurol"},{"key":"10.3343\/alm.2017.37.6.516_ref26","doi-asserted-by":"crossref","first-page":"e0157258","DOI":"10.1371\/journal.pone.0157258","volume":"11","author":"Cao","year":"2016","journal-title":"PLoS One"}],"container-title":["Annals of Laboratory Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/synapse.koreamed.org\/pdf\/10.3343\/alm.2017.37.6.516","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/synapse.koreamed.org\/DOIx.php?id=10.3343\/alm.2017.37.6.516","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/synapse.koreamed.org\/DOIx.php?id=10.3343\/alm.2017.37.6.516","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,10,30]],"date-time":"2020-10-30T03:12:12Z","timestamp":1604027532000},"score":1,"resource":{"primary":{"URL":"http:\/\/annlabmed.org\/journal\/view.html?doi=10.3343\/alm.2017.37.6.516"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,11,1]]},"references-count":26,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2017,11,1]]}},"alternative-id":["10.3343\/alm.2017.37.6.516"],"URL":"https:\/\/doi.org\/10.3343\/alm.2017.37.6.516","relation":{},"ISSN":["2234-3806","2234-3814"],"issn-type":[{"value":"2234-3806","type":"print"},{"value":"2234-3814","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,11,1]]},"assertion":[{"value":"http:\/\/annlabmed.org\/journal\/view.html?doi=10.3343\/alm.2017.37.6.516","URL":"http:\/\/annlabmed.org\/journal\/view.html?doi=10.3343\/alm.2017.37.6.516","name":"the_journal","label":"Ann Lab Med","group":{"name":"multiple_resolution","label":"Full text available at:"}},{"value":"2017-01-13","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2017-03-18","order":1,"name":"revised","label":"Revised","group":{"name":"publication_history","label":"Publication History"}},{"value":"2017-06-25","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2017-11-01","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}},{"value":"\u00a9 2017 The Korean Society for Laboratory Medicine","name":"copyright","label":"Copyright","group":{"name":"Copyright_and_licensing","label":"Copyright and Licensing"}},{"value":"This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http:\/\/creativecommons.org\/licenses\/by-nc\/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.","name":"license","label":"License","explanation":{"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0"},"group":{"name":"Copyright_and_licensing","label":"Copyright and Licensing"}}]}}