The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain

被引：317

作者：

Rougeulle, C

Glatt, H

Lalande, M

机构：

[1] CHILDRENS HOSP,DIV GENET,BOSTON,MA 02115

[2] CHILDRENS HOSP,HOWARD HUGHES MED INST,BOSTON,MA 02115

[3] HARVARD UNIV,SCH MED,DEPT PEDIAT,BOSTON,MA 02115

来源：

NATURE GENETICS | 1997年 / 17卷 / 01期

关键词：

D O I：

10.1038/ng0997-14

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

收藏

页码：14 / 15

页数：2

相关论文

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[1] Greger V, 1997, AM J HUM GENET, V60, P574
[2] PUPPET-LIKE SYNDROME OF ANGELMAN - A PATHOLOGICAL AND NEUROCHEMICAL STUDY
JAY, V
BECKER, LE
CHAN, FW
PERRY, TL
[J]. NEUROLOGY, 1991, 41 (03) : 416 - 422
[3] UBE3A/E6-AP mutations cause Angelman syndrome
Kishino, T
Lalande, M
Wagstaff, J
[J]. NATURE GENETICS, 1997, 15 (01) : 70 - 73
[4] De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
Matsuura, T
Sutcliffe, JS
Fang, P
Galjaard, RJ
Jiang, YH
Benton, CS
Rommens, JM
Beaudet, AL
[J]. NATURE GENETICS, 1997, 15 (01) : 74 - 77
[5] IMPRINTING ANALYSIS OF 3 GENES IN THE PRADER-WILLI/ANGELMAN REGION - SNRPN, E6-ASSOCIATED PROTEIN, AND PAR-2 (D15S225E)
NAKAO, M
SUTCLIFFE, JS
DURTSCHI, B
MUTIRANGURA, A
LEDBETTER, DH
BEAUDET, AL
[J]. HUMAN MOLECULAR GENETICS, 1994, 3 (02) : 309 - 315
[6] Cloning and characterization of the human homologue of a dystrophin related phosphoprotein found at the Torpedo electric organ post-synaptic membrane
SadouletPuccio, HM
Khurana, TS
Cohen, JB
Kunkel, LM
[J]. HUMAN MOLECULAR GENETICS, 1996, 5 (04) : 489 - 496
[7] The human E6-AP gene (UBE3A) encodes three potential protein isoforms generated by differential splicing
Yamamoto, Y
Huibregtse, JM
Howley, PM
[J]. GENOMICS, 1997, 41 (02) : 263 - 266