全外显子测序技术鉴定一个常染色体显性遗传性痉挛性截瘫3A型家系ATL1基因突变
郑备红, 孙艳, 邱淑敏, 陈晓菁, 杜生荣, 杨春梅,
Identification of ATL1 gene mutation in an autosomal dominant spastic paraplegia pedigree by whole exome sequencing
ZHENG Beihong, SUN Yan, QIU Shumin, CHEN Xiaojing, DU Shengrong, YANG Chun⁃ mei.
实用医学杂志
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2021, (13): 1761
-1764
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DOI: 10.3969/j.issn.1006⁃5725.2021.13.024
