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

页码：3170 / 3173

页数：4

共 14 条

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