Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
- 期刊名称Nature Genetics
- 作者Carvill, Gemma L; Heavin, Sinéad B; Yendle, Simone C; McMahon, Jacinta M; O'Roak, Brian J; Cook, Joseph; Khan, Adiba; Dorschner, Michael O; Weaver, Molly; Calvert, Sophie; Malone, Stephen; Wallace, Geoffrey; Stanley, Thorsten; Bye, Ann M E; Bleasel, Andrew; Howell, Katherine B; Kivity, Sara; Mackay, Mark T; Rodriguez-Casero, Victoria; Webster, Richard; Korczyn, Amos; Afawi, Zaid; Zelnick, Nathanel; Lerman-Sagie, Tally; Lev, Dorit; Møller, Rikke S; Gill, Deepak; Andrade, Danielle M; Freeman, Jeremy L; Sadleir, Lynette G; Shendure, Jay; Berkovic, Samuel F; Scheffer, Ingrid E; Mefford, Heather C
- 卷第45卷
- 期第7期
- 印刷ISSN1061-4036
- 电子ISSN1546-1718
- 文件大小380.07KB
- 发表时间2013-5-26
- DOI10.1038/ng.2646
- 页码825-830
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