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

[21] Fragile X syndrome
Magnay, D
Morritt, J
Waterston, T
ARCHIVES OF DISEASE IN CHILDHOOD, 1996, 74 (01) : 88 - 88
[22] Fragile X syndrome
Kathryn B Garber
Jeannie Visootsak
Stephen T Warren
European Journal of Human Genetics, 2008, 16 : 666 - 672
[23] Fragile X syndrome
Garber, Kathryn B.
Visootsak, Jeannie
Warren, Stephen T.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2008, 16 (06) : 666 - 672
[24] Fragile X syndrome
Hagerman, Randi J.
Berry-Kravis, Elizabeth
Hazlett, Heather Cody
Bailey, Donald B., Jr.
Moine, Herve
Kooy, R. Frank
Tassone, Flora
Gantois, Ilse
Sonenberg, Nahum
Mandel, Jean Louis
Hagerman, Paul J.
NATURE REVIEWS DISEASE PRIMERS, 2017, 3
[25] Fragile X Syndrome
Schwarte, Andrea R.
SCHOOL PSYCHOLOGY QUARTERLY, 2008, 23 (02) : 290 - 300
[26] Fragile X Syndrome
Hayes, Eriel Wallace
Matalon, Reuben
PEDIATRICS, 2009, 124 (02) : 790 - 792
[27] FRAGILE-X SYNDROME
SIMENSEN, RJ
ROGERS, RC
AMERICAN FAMILY PHYSICIAN, 1989, 39 (05) : 185 - 193
[28] Of mice and the fragile X syndrome
Kooy, RF
TRENDS IN GENETICS, 2003, 19 (03) : 148 - 154
[29] Prevalence of fragile X syndrome
Turner, G
Webb, T
Wake, S
Robinson, H
AMERICAN JOURNAL OF MEDICAL GENETICS, 1996, 64 (01): : 196 - 197
[30] FRAGILE X-SYNDROME
REISS, AL
FREUND, L
BIOLOGICAL PSYCHIATRY, 1990, 27 (02) : 223 - 240

← 1 2 3 4 5 →