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

页码：142 / 147

页数：6

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