基于二代测序技术的遗传性痉挛性截瘫一家系突变情况的分析-神经病学专业论文.docxVIP

PAGE PAGE IV Abstract be used for early screening, gene diagnosis of HSP patients, and provide a reliable basis for prenatal diagnosis. Among the sanger sequencing, the exon sequencing of gene panel and the whole exome sequencing, every one has its advantages and disadvantages. The correct selection of genetic testings, the rigorous sequencing process and complete information analysis method were necessary conditions to ensure the results are accurate. Keywords: Hereditary spastic paraplegia with a thin corpus callosum; Next generation sequencing; spastin gene mutation 目录 目录 目 录 第 1 章 前言 1