Comparison of two PCR-based molecular methods in the diagnosis of CMT 1A and HNPP diseases in Chinese

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• 作者：Shyue-Ru Chen ; Kon-Ping Lin ; Hung-Chou Kuo ; Chiung-Mei Chen ; Sung-Tsang Hsieh ; Ming-Jen Lee ; Chih-Chao Yang ; Chin-San Liu ; Chin-Chang Huang ; Rong-Kuo Lyu ; Long-Sun Ro
• 关键词：Charcot-Marie-Tooth type 1A ; Hereditary neuropathy with liability to pressure palsy ; Real-time quantitative PCR ; Three polymorphic short tandem repeats ; Heterozygosity ; Polymorphic markers
• 刊名：Clinical Neurology and Neurosurgery
• 出版年：2008
• 期刊代码：60_03038467
• 类别：med
• 出版时间：May 2008
• 卷：110
• 期：5
• 页码：466-471
• 文件大小：564 K

摘要

Current molecular diagnostic methods in detecting Charcot-Marie-Tooth type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsy (HNPP) diseases are either not sensitive or time-consuming and costing. The aims of this study are improving the accuracy and speeding up the diagnosis.