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在散发型腓骨肌萎缩症患者中未检测出LMNA基因突变(英文)
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作者 宋书娟 章远志 +5 位作者 陈彪 王曼捷 王越英 张远锦 闫明 Nanbert ZHONG 《北京大学学报(医学版)》 CAS CSCD 北大核心 2006年第1期78-79,共2页
Objective: To intensively investigate sporadic CMT patients, we have analyzed the LMNA gene in this study in a series of 32 unrelated CMT patients. Methods: Twelve exons of the LMNA gene were amplified from genetomic ... Objective: To intensively investigate sporadic CMT patients, we have analyzed the LMNA gene in this study in a series of 32 unrelated CMT patients. Methods: Twelve exons of the LMNA gene were amplified from genetomic DNA. PCR products of each exon were analyzed by single strand conformational polymorphism (SSCP). Results: No abnormal SSCP pattern, suggesting no mutation in our CMT patients, was detected. Conclusion: The CMT diseases resulted from the mutations of LMNA gene were rare. 展开更多
关键词 夏科-马里-图斯病 基因 LMNA 突变 散发型腓骨肌萎缩症
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