A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype

被引：0
|
作者：
de Bernabé, DBV
van Bokhoven, H
van Beusekom, E
Van den Akker, W
Kant, S
Dobyns, WB
Cormand, B
Currier, S
Hamel, B
Talim, B
Topaloglu, H
Brunner, HG
机构：
[1] Univ Med Ctr Nijmegen, Dept Human Genet 417, NL-6500 HB Nijmegen, Netherlands
[2] Netherlands Inst Dev Biol, Hubrecht Lab, NL-3584 CT Utrecht, Netherlands
[3] Univ Med Ctr Leiden, Dept Clin Genet, Leiden, Netherlands
[4] Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA
[5] Univ Chicago, Dept Neurol, Chicago, IL 60637 USA
[6] Univ Chicago, Dept Pediat, Chicago, IL 60637 USA
[7] Univ Barcelona, Dept Genet, Barcelona, Spain
[8] Beth Israel Deaconess Med Ctr, Div Neurogenet, Boston, MA 02215 USA
[9] Harvard Univ, Sch Med, Boston, MA USA
[10] Hacettepe Childrens Hosp Med Ctr, Ankara, Turkey
来源：
JOURNAL OF MEDICAL GENETICS | 2003年 / 40卷 / 11期
关键词：
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：845 / 848
页数：4
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