Variant Late Infantile Neuronal Ceroid Lipofuscinosis (CLN6 Gene) in Saudi Arabia

被引：16

作者：

Al-Muhaizea, Mohammad A. ^{[1
]}

Al-Hassnan, Zuhair N. ^{[2
,3
]}

Chedrawi, Aziza ^{[1
]}

机构：

[1] King Faisal Specialist Hosp & Res Ctr, Dept Neurosci, Riyadh 11211, Saudi Arabia

[2] King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh 11211, Saudi Arabia

[3] Alfaisal Univ, Coll Med, Riyadh, Saudi Arabia

来源：

PEDIATRIC NEUROLOGY | 2009年 / 41卷 / 01期

关键词：

MUTATIONS; PROTEIN;

D O I：

10.1016/j.pediatrneurol.2009.01.012

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Variant late infantile neuronal ceroid lipofuscinosis is one of the multiethnically prevalent types of neuronal ceroid lipofuscinoses. Reported here are three families representing the first cases from Saudi Arabia, one of them having a novel mutation in the CLN6 gene. The CLN6-related literature is reviewed. (C) 2009 by Elsevier Inc. All rights reserved.

引用

页码：74 / 76

页数：3

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