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机译:Actl6b中的突变,编码神经元特异性染色质重塑的络合物NBAF的亚基,导致早期发作严重发育和癫痫发育和癫痫发育和癫痫脑萎缩
Univ Catania Dept Biomed &
Biotechnol Sci Med Genet Via Santa Sofia 87 I-95123 Catania Italy;
Oasi Res Inst IRCCS Troina Italy;
Univ Catania Dept Biomed &
Biotechnol Sci Med Genet Via Santa Sofia 87 I-95123 Catania Italy;
Univ Catania Dept Biomed &
Biotechnol Sci Med Genet Via Santa Sofia 87 I-95123 Catania Italy;
Univ Catania Dept Biomed &
Biotechnol Sci Med Genet Via Santa Sofia 87 I-95123 Catania Italy;
Oasi Res Inst IRCCS Troina Italy;
Oasi Res Inst IRCCS Troina Italy;
Oasi Res Inst IRCCS Troina Italy;
Oasi Res Inst IRCCS Troina Italy;
Oasi Res Inst IRCCS Troina Italy;
Oasi Res Inst IRCCS Troina Italy;
Oasi Res Inst IRCCS Troina Italy;
Oasi Res Inst IRCCS Troina Italy;
机译:Actl6b中的突变,编码神经元特异性染色质重塑的络合物NBAF的亚基,导致早期发作严重发育和癫痫发育和癫痫发育和癫痫脑萎缩
机译:AP3B2,与适配器相关的蛋白复合物3 Beta 2亚基的常染色体隐性突变,导致视神经萎缩的早发性癫痫性脑病
机译:与影响USNRNP组装的PTPN23变体相关的癫痫症和脑萎缩的发育癫痫患者脑萎缩
机译:AP3B2与适配器相关的蛋白复合物3 Beta 2亚基的常染色体隐性突变导致视神经萎缩的早发性癫痫性脑病
机译:AP3B2,与适配器相关的蛋白复合物3 Beta 2亚基的常染色体隐性突变,导致视神经萎缩的早发性癫痫性脑病