北京大学学报（医学版）
北京大學學報（醫學版）
북경대학학보（의학판）
JOURNAL OF BEIJING MEDICAL UNIVERSITY(HEALTH SCIENCES)
2006年
1期
78-79
,共2页
宋书娟%章远志%陈彪%王曼捷%王越英%张远锦%闫明%Nanbert ZHONG
宋書娟%章遠誌%陳彪%王曼捷%王越英%張遠錦%閆明%Nanbert ZHONG
송서연%장원지%진표%왕만첩%왕월영%장원금%염명%Nanbert ZHONG
夏科-马里-图斯病%基因,LMNA%突变
夏科-馬裏-圖斯病%基因,LMNA%突變
하과-마리-도사병%기인,LMNA%돌변
Charcot-Marie-Tooth disease%Genes,LMNA%Mutation
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.
