Fragile X syndrome

被引：9
作者：
Chakrabarti, L [1 ]
Davies, KE [1 ]
机构：
[1] UNIV OXFORD,DEPT BIOCHEM,GENET UNIT,OXFORD OX1 3QU,ENGLAND
来源：
CURRENT OPINION IN NEUROLOGY | 1997年 / 10卷 / 02期
关键词：
D O I：
10.1097/00019052-199704000-00012
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
The fragile X syndrome is characterized by mental handicap, facial dysmorphism and expression of a fragile site at Xq27.3. An expansion of a CGG repeat in the 5' end of the fragile X mental retardation 1 (FMR1) gene results in the absence of the encoded fragile X mental retardation protein, known to play an important role in RNA processing and probably the developmental maturation of brain neurons.
引用
收藏
页码：142 / 147
页数：6
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