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

页码：95 / 97

页数：3

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