Transcription defects induced by repeat expansion: fragile X syndrome, FRAXE mental retardation, progressive myoclonus epilepsy type 1, and Friedreich ataxia

被引：9

作者：

Greene, E ^{[1
]}

Handa, V ^{[1
]}

Kumari, D ^{[1
]}

Usdin, K ^{[1
]}

机构：

[1] NIDDKD, Sect Genom Struct & Funct, Lab Mol & Cellular Biol, NIH, Bethesda, MD 20892 USA

来源：

CYTOGENETIC AND GENOME RESEARCH | 2003年 / 100卷 / 1-4期

关键词：

D O I：

10.1159/000072839

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Fragile X mental retardation syndrome, FRAXE mental retardation, Progressive myoclonus epilepsy Type 1, and Friedreich ataxia are members of a larger group of genetic disorders known as the Repeat Expansion Diseases. Unlike other members of this group, these four disorders all result from Basel. a primary defect in the initiation or elongation of transcription. In this review, we discuss current models for the relationship between the expanded repeat and the disease symptoms. Copyright (C) 2002 S. Karger AG.

引用

页码：65 / 76

页数：12

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