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机译:具有X-Linked Charcot-Marie-tooth的8代家庭:确认GJB1 GJB1中的3'未转换区域突变的致病性及其临床特征
Department of NeurologyUniversity of WashingtonSeattle Washington USA;
Department of NeurologyUniversity of WashingtonSeattle Washington USA;
Nemours/Alfred I. duPont Hospital for ChildrenWilmington Delaware USA;
Department of Medicine (Medical Genetics)University of WashingtonSeattle Washington USA;
Department of Medicine (Medical Genetics)University of WashingtonSeattle Washington USA;
Department of Medicine (Medical Genetics)University of WashingtonSeattle Washington USA;
Center for Precision DiagnosticsUniversity of WashingtonSeattle Washington USA;
Department of Medicine (Medical Genetics)University of WashingtonSeattle Washington USA;
Department of NeurologyUniversity of WashingtonSeattle Washington USA;
Charcot‐Marie‐Tooth; CMTX; Connexin‐32; GJB1; Neuropathy; X‐linked;
机译:具有X-Linked Charcot-Marie-tooth的8代家庭:确认GJB1 GJB1中的3'未转换区域突变的致病性及其临床特征
机译:X连锁性炭疽病患者中间隙连接蛋白BETA-1基因(GJB1)的新型家族性突变与短暂性神经系统疾病相关
机译:一种新的GJB1突变与大型中国家庭血统的X型Charcot-Marie-Touths相关联
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机译:糖基-tRNA合成酶突变导致2D型Charcot-Marie-Tooth病和V型远端脊髓性肌萎缩症:人类周围神经病的潜在新型疾病机制。
机译:CMTX八代家族:GJB1 3非翻译区突变的致病性及其临床特征的证实
机译:具有X-Linked Charcot-Marie-tooth的8代家庭:确认GJB1中的3'未翻译区域突变的致病性及其临床特征