Mutations in FA2H in three Arab families with a clinical spectrum of neurodegeneration and hereditary spastic paraparesis

被引：10
|
作者：
Zaki, M. S. [1 ]
Selim, L. [2 ]
Mansour, L. [2 ]
Mahmoud, I. G. [2 ]
Fenstermaker, A. G. [3 ]
Gabriel, S. B. [4 ]
Gleeson, J. G. [3 ]
机构：
[1] Natl Res Ctr, Dept Clin Genet, Cairo, Egypt
[2] Cairo Univ, Pediat Neurol Dept, Cairo, Egypt
[3] Univ Calif San Diego, Dept Neurosci, Howard Hughes Med Inst, Neurogenet Lab, San Diego, CA 92103 USA
[4] Broad Inst Harvard & Massachusetts Inst Technol, Cambridge, MA USA
来源：
CLINICAL GENETICS | 2015年 / 88卷 / 01期
关键词：
FATTY-ACID; 2-HYDROXYLASE; DISORDERS; DISEASE; GENE; FORM;
D O I：
10.1111/cge.12516
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：95 / 97
页数：3
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