Intragenic deletion of UBE3A gene in 2 sisters with Angelman syndrome detected by MLPA

被引：7
|
作者：
Piard, Juliette [1 ,2 ]
Depienne, Christel [3 ,4 ]
Keren, Boris [5 ]
Fedirko, Estelle [3 ]
Trouillard, Oriane [3 ]
Charles, Perrine [1 ]
Heron, Delphine [1 ]
机构：
[1] Grp Hosp CRicm, AP HP, Unite Fonct Genet Med,Dept Genet & Cytogenet,UMR, Ctr Reference Deficiences Intellectuelles Causes, Paris, France
[2] Univ Franche Comte, CHU Besancon, Ctr Genet Humaine, F-25030 Besancon, France
[3] Hop La Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, Ctr Genet Mol,Unite Fonct Neurogenet Mol & Cellul, Paris, France
[4] Univ Paris 06, UMR S975, CRicm, Ex U679, Paris, France
[5] Hop La Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, Unite Fonct Cytogenet, Paris, France
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2011年 / 155A卷 / 12期
关键词：
D O I：
10.1002/ajmg.a.34334
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：3170 / 3173
页数：4
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