De novo MECP2 mutation in a 46,XX male patient with Rett syndrome

被引：16
|
作者：
Maiwald, R
Bönte, A
Jung, H
Bitter, P
Storm, Z
Laccone, F
Herkenrath, P
机构：
[1] Inst Med Genet & Mol Med, D-50939 Cologne, Germany
[2] Univ Cologne, Childrens Hosp, D-50924 Cologne, Germany
[3] Univ Gottingen, Inst Human Genet, D-37073 Gottingen, Germany
来源：
NEUROGENETICS | 2002年 / 4卷 / 02期
关键词：
Rett syndrome; MECP2; E455X; XX male;
D O I：
10.1007/s10048-002-0137-5
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：107 / 108
页数：2
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