Identification of a Novel Twinkle Mutation in a Family With Infantile Onset Spinocerebellar Ataxia by Whole Exome Sequencing

• 作者Halil Dündar; Rıza Köksal Özgül; Dilek Yalnızoğlu; Sevim Erdem; Kader Karlı Oğuz; Deniz Tuncel; Çağrı Mesut Temuçin; Ali Dursun
• 卷第46卷
• 期第3期
• 印刷ISSN0887-8994
• 文件大小352.76KB
• 发表时间2012
• DOI10.1016/j.pediatrneurol.2011.12.006