Gaucher mutation N188S is associated with myoclonic epilepsy

被引：12

作者：

Kowarz, L

Goker-Alpan, O

Banerjee-Basu, S

LaMarca, ME

Kinlaw, L

Schiffmann, R

Baxevanis, AD

Sidransky, E

机构：

[1] Natl Inst Mental Hlth, Sect Mol Neurogenet, Clin Neurosci Branch, Bethesda, MD 20892 USA

[2] Natl Human Genome Res Inst, Med Genet Branch, Bethesda, MD 20892 USA

[3] Natl Human Genome Res Inst, Genome Technol Branch, Computat Genom Program, Bethesda, MD USA

[4] Natl Inst Neurol Disorders & Stroke, Dev & Metab Neurol Branch, Bethesda, MD USA

来源：

HUMAN MUTATION | 2005年 / 26卷 / 03期

关键词：

D O I：

10.1002/humu.20217

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The recent article by Montfort et al. [2004] reported a functional analysis of 13 glucocerebrosidase alleles, including mutation N188S, which they considered to be a "very mild mutations' or "modifier variant." Our clinical experience with patients carrying this mutation and preliminary protein modeling data lead us to dispute this conclusion.

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收藏

页码：271 / 273

页数：3

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