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机译:具有典型RETT综合征和后期产前诊断的中国患者中甲基-CPG结合蛋白2(MECP2)基因突变中的一种新突变
State Key Laboratory of Reproductive Medicine Department of Prenatal Diagnosis Nanjing Maternity;
State Key Laboratory of Reproductive Medicine Department of Prenatal Diagnosis Nanjing Maternity;
State Key Laboratory of Reproductive Medicine Department of Prenatal Diagnosis Nanjing Maternity;
State Key Laboratory of Reproductive Medicine Department of Prenatal Diagnosis Nanjing Maternity;
State Key Laboratory of Reproductive Medicine Department of Prenatal Diagnosis Nanjing Maternity;
State Key Laboratory of Reproductive Medicine Department of Prenatal Diagnosis Nanjing Maternity;
State Key Laboratory of Reproductive Medicine Department of Prenatal Diagnosis Nanjing Maternity;
State Key Laboratory of Reproductive Medicine Department of Prenatal Diagnosis Nanjing Maternity;
State Key Laboratory of Reproductive Medicine Department of Prenatal Diagnosis Nanjing Maternity;
State Key Laboratory of Reproductive Medicine Department of Prenatal Diagnosis Nanjing Maternity;
Rett syndrome; MECP2; Novel mutation; Prenatal diagnosis;
机译:具有典型RETT综合征和后期产前诊断的中国患者中甲基-CPG结合蛋白2(MECP2)基因突变中的一种新突变(Vol 45,PG 806,2018)
机译:Rett综合征是由X连锁的MECP2突变引起的,该突变编码甲基CpG结合蛋白2(参见评论)
机译:甲基-CPG结合蛋白2(MECP2)突变类型与RETT综合征中的骨病严重相关
机译:SEDC和SEDC分子前诊断的中国大家庭的基因定位和突变检测
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:甲基CpG结合蛋白2(MECP2)突变类型与Rett综合征的骨病严重程度相关
机译:用RETT综合征血浆血症患者MECP2基因的突变分析:新型突变与多态性