MECP2 mutation in one of Rett's original patients

被引:2
作者
Freilinger, M. [3 ]
Berndt, A. [4 ]
Haas, O. A. [1 ,2 ]
机构
[1] St Anna Childrens Hosp, A-1090 Vienna, Austria
[2] Medgen At GmbH, Vienna, Austria
[3] Med Univ Vienna, Div Gen Pediat & Neonatol, Dept Pediat & Adolescent Med, Vienna, Austria
[4] Labdia GmbH, Vienna, Austria
关键词
D O I
10.1136/jmg.2008.063636
中图分类号
Q3 [遗传学];
学科分类号
071007 [遗传学];
摘要
引用
收藏
页码:647 / 648
页数:4
相关论文
共 4 条
[1]
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 [J].
Amir, RE ;
Van den Veyver, IB ;
Wan, M ;
Tran, CQ ;
Francke, U ;
Zoghbi, HY .
NATURE GENETICS, 1999, 23 (02) :185-188
[2]
Rett syndrome: clinical and molecular update [J].
Percy, AK ;
Lane, JB .
CURRENT OPINION IN PEDIATRICS, 2004, 16 (06) :670-677
[3]
Rett A, 1966, Wien Med Wochenschr, V116, P723
[4]
Rett syndrome: new clinical and molecular insights [J].
Williamson, Sarah L. ;
Christodoulou, John .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2006, 14 (08) :896-903