A novel TSC2 mutation in a Korean patient with tuberous sclerosis complex

被引:0
|
作者
Hu, Hae-Jin [1 ,2 ]
Chung, Yeun-Jun [1 ,2 ]
Yoo, Han-Wook [3 ,4 ]
Kim, Young-Hoon [5 ]
Eom, Tae-Hoon [5 ]
机构
[1] Catholic Univ Korea, Dept Microbiol, Coll Med, Seoul 137701, South Korea
[2] Catholic Univ Korea, Integrated Res Ctr Genome Polymorphism, Coll Med, Seoul 137701, South Korea
[3] Univ Ulsan, Coll Med, Asan Med Ctr, Dept Pediat,Childrens Hosp, Seoul 138736, South Korea
[4] Univ Ulsan, Coll Med, Asan Med Ctr, Med Genet Ctr,Childrens Hosp, Seoul 138736, South Korea
[5] Catholic Univ Korea, Dept Pediat, Coll Med, Seoul 137701, South Korea
关键词
Tuberous Sclerosis Complex; Vigabatrin; Clinical Diagnostic Criterion; Cortical Tuber; Heterozygous Missense Mutation;
D O I
10.1007/s10072-014-1803-8
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:1487 / 1489
页数:3
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