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机译:由MECP2_E1突变引起的经典RETT综合征的罕见雄性患者
Departmentof Paediatrics Graduate School of Biomedical SciencesTokushima UniversityTokushima Japan;
Departmentof Paediatrics Graduate School of Biomedical SciencesTokushima UniversityTokushima Japan;
Department of Human GeneticsTokushima UniversityTokushima Japan;
Department of Human GeneticsTokushima UniversityTokushima Japan;
Department of Human GeneticsTokushima UniversityTokushima Japan;
Departmentof Paediatrics Graduate School of Biomedical SciencesTokushima UniversityTokushima Japan;
Departmentof Paediatrics Graduate School of Biomedical SciencesTokushima UniversityTokushima Japan;
Departmentof Paediatrics Graduate School of Biomedical SciencesTokushima UniversityTokushima Japan;
Department of Human GeneticsTokushima UniversityTokushima Japan;
Department of Human GeneticsTokushima UniversityTokushima Japan;
Department of Human GeneticsTokushima UniversityTokushima Japan;
Departmentof Paediatrics Graduate School of Biomedical SciencesTokushima UniversityTokushima Japan;
Department of Human GeneticsTokushima UniversityTokushima Japan;
classic Rett syndrome; exon 1; MECP2; MeCP2_e1; mutation;
机译:由MECP2_E1突变引起的经典RETT综合征的罕见雄性患者
机译:引起Rett综合征的第一个错义突变特别影响MeCP2_e1同工型。
机译:MECP2中新的外显子1突变涉及经典Rett综合征的同工型MeCP2_e1。
机译:使用限制Boltzmann Machine的RETT综合征患者呼吸紊乱分类
机译:两种与染色质相关的因子的研究:MeCP2分析和与Rett综合征相关的突变鉴定绝缘子蛋白CTCF的辅助因子
机译:MeCP2_e2部分弥补了MeCP2_e1的不足:男性Rett综合征
机译:MECP2基因突变不是男性患者瑞特综合征或相关的神经发育表型的主要原因