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- Objective:Short tandem repeats (STRs) sequences 4A, 9A and 9B were used to detect gene dup lication of Charcot Marie Tooth disease type 1A(CMT1A). 目的 :应用位于 17p11 2 p12的短串联重复序列 (STR) 4A、9A和 9B检测腓骨肌萎缩征 1A型的基因重复。
- Keywords Charcot Marie Tooth disease;neurofilament light gene;mutation analysis; 关键词腓骨肌萎缩症;神经丝轻链基因;突变分析;
- Keywords Charcot Marie Tooth disease;connexin32 gene;gene mutation;DNA sequencing; 关键词进行性腓骨肌萎缩症;连接蛋白32基因;基因突变;DNA序列测定;
- Objective:To detect the 17p11.2 p12 duplication in Chinese Charcot Marie Tooth 1 patients, and to analyze the clinical feature of the patients. Methods:Extract DNA from the peripheral white blood cell of 29 members from 15 CMT1 families. 目的：探察国人Charcot－Marie－Tooth 病1A （CMT1A） 型患者的17p11.;2－p12 区基因重复及与临床表现型的关系。
- Keywords Charcot Marie Tooth 1A;recombination hotspot;polymorphisms; 腓骨肌萎缩症1A;重组热点;多态性;
- Charcot--Marie--Tooth disease type 1 腓骨肌萎缩症1（CMT1）型
- Two cases of shoulder petoneal muscular atrophy (SPMA),a rare type of charcot-Marie- Tooth disease,are reported. 本文报告两例进行性神经性肌萎缩症(Charcot-Marie-Tooth)的少见特殊类型-肩胛腓骨萎缩型,亦属慢性遗传性进行性周围神经病的变异型之一。
- His disease was complicated by pneumonia. 他的病因肺炎并发症而变得更严重。
- Keywords Senile tooth disease;Dental caries;Anodontia; 老年牙体病;龋齿;缺失牙;
- Mr Peter Brown c/o Mme Marie Duval ... 玛丽·杜瓦尔夫人转交彼得·布朗先生。
- I was given gas when they pulled my tooth out. 给我拔牙时用了一氧化二氮。
- A film of mucus and bacteria on a tooth surface. 齿菌斑牙齿表面一层粘液和细菌的膜
- Queen Marie Antoinette of France was the wife of Louis the 16th. 法国玛丽安东妮皇后是路易十六的妻子。
- This tooth is sensitive to cold. 这颗牙对冷过敏。
- What can we do to prevent the disease spreading? 我们能做什么来防止这种疾病蔓延呢？
- Mike's wife have a big sweet tooth. 迈克的妻子非常喜欢吃甜食。
- He had a bad tooth pulled out yesterday. 昨天他把蛀牙给拔掉了。
- I was fitted an artificial tooth by the dentist. 牙医给我镶了颗假牙。
- John put up a real fight to overcome the disease. 约翰为征服疾病，进行了不屈的斗争。
- The poor man has a serious disease of the liver. 这个可怜的人患有严重的肝病。
