Microarray analysis unmasked two siblings with pure hereditary spastic paraplegia shared a run of homozygosity region on chromosome 3q28-q29
详细信息 查看全文
- 作者：Wenqian Yua ; 1 ; Xiangdong Youb ; 1 ; Dong Wanga ; Kai Donga ; Jing Suc ; Chuanfen Lic ; Jinxiu Liua ; Qianqian Zhanga ; Feng Youa ; Xiangrong Wanga ; Jing Huanga ; Bin Qiaoa ; 2 ; cijnmd@outlook.com" class="auth_mail" title="E-mail the corresponding author ; Wenyuan Duana ; 2 ; dwy2115@126.com" class="auth_mail" title="E-mail the corresponding author
- 关键词：Hereditary spastic paraplegia ; Microarray ; 3q28&ndash ; q29 ; Run of homozygosity ; SPG14 ; Autosomal recessive ; Neurodegenerative disorder
- 刊名：Journal of the Neurological Sciences
- 出版年：2015
- 出版时间：15 December 2015
- 年：2015
- 卷：359
- 期：1-2
- 页码：351-355
- 全文大小：746 K
文摘
- •
Two siblings revealed pure form of hereditary spastic paraplegia.
- •
Microarray analysis detected the two siblings shared a run of homozygosity.
- •
The run of homozygosity region located on chromosome 3q28–29 was about 7.7 Mb.
- •
The shared region partially overlapped with the locus of SPG14.