遗传性痉挛性截瘫
胼胝体
遗传学
截瘫
基因座(遗传学)
医学
痉挛的
白质营养不良
生物
病理
基因
表型
物理医学与康复
疾病
精神科
脊髓
脑瘫
作者
Salma M. Wakil,Hatem Murad,Batoul Baz,S. Hagos,Rana Al-Amr,Suad Alyamani,Salem Alwadaee,Brian F. Meyer,Saeed Bohlega
出处
期刊:PubMed
[National Institutes of Health]
日期:2012-01-01
卷期号:17 (1): 48-52
被引量:3
摘要
We report 2 novel mutations in this gene, including an indel considerably larger than any other identified to date. The identification of these mutations further confirms the causative link between SPG11 and ARHSP-TCC in these families.
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