FRAGILE-X-SYNDROME

Authors
CHAKRABARTI L DAVIES KE
Citation
L. Chakrabarti et Ke. Davies, FRAGILE-X-SYNDROME, Current opinion in neurology, 10(2), 1997, pp. 142-147
Citations number
64
Categorie Soggetti
Neurosciences,"Clinical Neurology
Journal title
Current opinion in neurology → ACNP
ISSN journal
13507540
Volume
10
Issue
2
Year of publication
1997
Pages
142 - 147
Database
ISI
SICI code
1350-7540(1997)10:2<142:F>2.0.ZU;2-E
Abstract
The fragile X syndrome is characterized by mental handicap, facial dys morphism 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 retardati on protein, known to play an important role in RNA processing and prob ably the developmental maturation of brain neurons.