Deletion of the P2 promoter of the GJB1 gene confirms X-linked Charcot-Marie-Tooth disease in a large family

Kulshrestha R.; Antoniadi T.; Burton-Jones S.; Rogers M.; Kiely N.; Willis T.

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Deletion of the P2 promoter of the GJB1 gene confirms X-linked Charcot-Marie-Tooth disease in a large family

机译：GJB1基因的P2启动子的删除证实了一个大家族中X连锁的Charcot-Marie-Tooth病

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《Neuromuscular disorders: NMD》 |2015年第2期|共2页
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Kulshrestha R.; Antoniadi T.; Burton-Jones S.; Rogers M.; Kiely N.; Willis T.;
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正文语种 eng
中图分类神经病学;
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1. Deletion of the P2 promoter of the GJB1 gene confirms X-linked Charcot-Marie-Tooth disease in a large family [J] . Kulshrestha R., Antoniadi T., Burton-Jones S., Neuromuscular disorders: NMD . 2015,第Suppla2期

机译：GJB1基因的P2启动子的删除证实了一个大家族中X连锁的Charcot-Marie-Tooth病
2. A novel deletion mutation in GJB1 causes X-linked Charcot-Marie-Tooth disease in a Han Chinese family. [J] . Lin P, Mao F, Liu Q, Muscle and Nerve . 2010,第6期

机译：GJB1中一个新的缺失突变会导致汉族家庭X连锁性Charcot-Marie-Tooth病。
3. Clinical, electrophysiological and molecular genetic studies in a family with X-linked dominant Charcot-Marie-Tooth neuropathy presenting a novel mutation in GJB1 Promoter and a rare polymorphism in LITAF/SIMPLE. [J] . Beauvais K, Furby A, Latour P Neuromuscular disorders: NMD . 2006,第1期

机译：在X连锁显性Charcot-Marie-Tooth神经病患者的家庭中进行临床，电生理和分子遗传研究，显示GJB1启动子发生新突变，LITAF / SIMPLE发生罕见的多态性。
4. Skin texture-enhancement for automated 3D point cloud generation in charcot-marie-tooth disease application [C] . Alshadli Duaa, Chong Albert K, McDougall Kevin, 2011 10th International Conference on Electronic Measurement Instruments . 2011

机译：在夏洛特玛丽牙齿疾病应用中自动生成3D点云的皮肤纹理增强
5. Genetic variation and complex disease: The examination of an X-linked disorder and a multifactorial disease. [D] . Cottrell, Catherine Elise. 2007

机译：遗传变异和复杂疾病：X连锁疾病和多因素疾病的检查。
6. GJB1 Gene Analysis in Two Extended Families with X-Linked Charcot-Marie-Tooth Disease [O] . Sabine Kovale, Ruta Terauda, Elina Millere, 2021

机译：两个大家庭的GJB1基因分析具有X链状的Charcot-Marie-Doother疾病
7. GJB1 Gene Analysis in Two Extended Families with X-Linked Charcot-Marie-Tooth Disease [O] . Sabine Kovale, Ruta Terauda, Elina Millere, 2021

机译：gjb1 在两个延长的家庭中的基因分析，具有X连接的Charcot-Marie-Doother疾病

Deletion of the P2 promoter of the GJB1 gene confirms X-linked Charcot-Marie-Tooth disease in a large family

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