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

共 50 条

[1] Fragile X Syndrome
Saldarriaga, Wilmar
Tassone, Flora
Yuriko Gonzalez-Teshima, Laura
Vicente Forero-Forero, Jose
Ayala-Zapata, Sebastian
Hagerman, Randi
COLOMBIA MEDICA, 2014, 45 (04): : 190 - 198
[2] Fragile X syndrome
Nature Reviews Disease Primers, 3 (1)
[3] The fragile X syndrome
de Vries, BBA
Halley, DJJ
Oostra, BA
Niermeijer, MF
JOURNAL OF MEDICAL GENETICS, 1998, 35 (07) : 579 - 589
[4] Fragile X Syndrome
Donnenfeld A.E.
The Indian Journal of Pediatrics, 1998, 65 (4) : 513 - 518
[5] Fragile X Syndrome
McLennan, Yingratana
Polussa, Jonathan
Tassone, Flora
Hagerman, Randi
CURRENT GENOMICS, 2011, 12 (03) : 216 - 224
[6] The fragile X syndrome
Szot, M
FOLIA HISTOCHEMICA ET CYTOBIOLOGICA, 1997, 35 (03): : 135 - 141
[7] Fragile X syndrome
Vidyashankar, C
INDIAN PEDIATRICS, 2005, 42 (10) : 1065 - 1065
[8] Fragile X syndrome
不详
PROGRESS IN NEUROLOGY AND PSYCHIATRY, 2011, 15 (04) : 35 - 35
[9] Fragile X syndrome
Randi J. Hagerman
Elizabeth Berry-Kravis
Heather Cody Hazlett
Donald B. Bailey
Herve Moine
R. Frank Kooy
Flora Tassone
Ilse Gantois
Nahum Sonenberg
Jean Louis Mandel
Paul J. Hagerman
Nature Reviews Disease Primers, 3
[10] Fragile X syndrome
Hagerman, RJ
CHILD AND ADOLESCENT PSYCHIATRIC CLINICS OF NORTH AMERICA, 1996, 5 (04) : 895 - &

← 1 2 3 4 5 →