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

Autor: Dündar, Halil, Özgül, Rıza Köksal, Yalnızoğlu, Dilek, Erdem, Sevim, Oğuz, Kader Karlı, Tuncel, Deniz, Temuçin, Çağrı Mesut, Dursun, Ali
Zdroj: In Pediatric Neurology March 2012 46(3):172-177
Databáze: ScienceDirect