SPG3A相关论文
A SPG3A mutation with a novel foot phenotype of hereditary spastic paraplegia in a Chinese Han famil
Hereditary spastic paraplegia (HSP) (MIM#182600) is a group of heterogeneous neurodegenerative disorders, with 35 under......
在一个重症、病情进展迅速的西藏遗传性痉挛性截瘫(HSP)家系的SPG3A基因中发现了一个以前未报道的致病性新突变,c.1228G>A(p.G410R)......
Genetic and structural analyses suggest that a novel SPG3A mutation causes severe phenotypes of here
为探究吕家坨井田地质构造格局,根据钻孔勘探资料,采用分形理论和趋势面分析方法,研究了井田7......
A SPG3A mutation with a novel foot phenotype of hereditary spastic paraplegia in a Chinese Han famil
Hereditary spastic paraplegia (HSP) (MIM#182600) is a group of heterogeneous neurodegenerative disorders, with 35 underl......
在一个重症、病情进展迅速的西藏遗传性痉挛性截瘫(HSP)家系的SPG3A基因中发现了一个以前未报道的致病性新突变,c.1228G>A(p.G410R)......
目的:分析遗传性痉挛性截瘫(HSP)SPG3A基因组结构,探讨部分正常人群SPG3A的基因多态性。方法:应用DNA序列测定对110个年龄大于60岁的正......
研究背景:遗传性痉挛性截瘫(hereditary spastic paraplegia, SPG或HSP),是目前遗传学上很受关注的一组具有高度临床和遗传异质性的神......