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The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain
被引:321
作者
:
Rougeulle, C
论文数:
0
引用数:
0
h-index:
0
机构:
CHILDRENS HOSP,DIV GENET,BOSTON,MA 02115
Rougeulle, C
Glatt, H
论文数:
0
引用数:
0
h-index:
0
机构:
CHILDRENS HOSP,DIV GENET,BOSTON,MA 02115
Glatt, H
Lalande, M
论文数:
0
引用数:
0
h-index:
0
机构:
CHILDRENS HOSP,DIV GENET,BOSTON,MA 02115
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
共 7 条
[1]
Greger V, 1997, AM J HUM GENET, V60, P574
[2]
PUPPET-LIKE SYNDROME OF ANGELMAN - A PATHOLOGICAL AND NEUROCHEMICAL STUDY
[J].
JAY, V
论文数:
0
引用数:
0
h-index:
0
机构:
HOSP SICK CHILDREN, DEPT PATHOL, DIV NEUROPATHOL, 555 UNIV AVE, TORONTO M5G 1X8, ONTARIO, CANADA
JAY, V
;
BECKER, LE
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0
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HOSP SICK CHILDREN, DEPT PATHOL, DIV NEUROPATHOL, 555 UNIV AVE, TORONTO M5G 1X8, ONTARIO, CANADA
BECKER, LE
;
CHAN, FW
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HOSP SICK CHILDREN, DEPT PATHOL, DIV NEUROPATHOL, 555 UNIV AVE, TORONTO M5G 1X8, ONTARIO, CANADA
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;
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论文数:
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HOSP SICK CHILDREN, DEPT PATHOL, DIV NEUROPATHOL, 555 UNIV AVE, TORONTO M5G 1X8, ONTARIO, CANADA
PERRY, TL
.
NEUROLOGY,
1991,
41
(03)
:416
-422
[3]
UBE3A/E6-AP mutations cause Angelman syndrome
[J].
Kishino, T
论文数:
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0
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机构:
CHILDRENS HOSP,DIV GENET,BOSTON,MA 02115
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CHILDRENS HOSP,DIV GENET,BOSTON,MA 02115
Wagstaff, J
.
NATURE GENETICS,
1997,
15
(01)
:70
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[4]
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
[J].
Matsuura, T
论文数:
0
引用数:
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BAYLOR COLL MED,DEPT MOL & HUMAN GENET,HOWARD HUGHES MED INST,HOUSTON,TX 77030
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Sutcliffe, JS
;
Fang, P
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.
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(01)
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IMPRINTING ANALYSIS OF 3 GENES IN THE PRADER-WILLI/ANGELMAN REGION - SNRPN, E6-ASSOCIATED PROTEIN, AND PAR-2 (D15S225E)
[J].
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LEDBETTER, DH
;
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h-index:
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机构:
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BEAUDET, AL
.
HUMAN MOLECULAR GENETICS,
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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
[J].
SadouletPuccio, HM
论文数:
0
引用数:
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HARVARD UNIV,SCH MED,DEPT GENET,BOSTON,MA 02115
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;
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HUMAN MOLECULAR GENETICS,
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5
(04)
:489
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[7]
The human E6-AP gene (UBE3A) encodes three potential protein isoforms generated by differential splicing
[J].
Yamamoto, Y
论文数:
0
引用数:
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h-index:
0
机构:
HARVARD UNIV,SCH MED,DEPT PATHOL,BOSTON,MA 02115
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Yamamoto, Y
;
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论文数:
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引用数:
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;
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Howley, PM
.
GENOMICS,
1997,
41
(02)
:263
-266
←
1
→
共 7 条
[1]
Greger V, 1997, AM J HUM GENET, V60, P574
[2]
PUPPET-LIKE SYNDROME OF ANGELMAN - A PATHOLOGICAL AND NEUROCHEMICAL STUDY
[J].
JAY, V
论文数:
0
引用数:
0
h-index:
0
机构:
HOSP SICK CHILDREN, DEPT PATHOL, DIV NEUROPATHOL, 555 UNIV AVE, TORONTO M5G 1X8, ONTARIO, CANADA
JAY, V
;
BECKER, LE
论文数:
0
引用数:
0
h-index:
0
机构:
HOSP SICK CHILDREN, DEPT PATHOL, DIV NEUROPATHOL, 555 UNIV AVE, TORONTO M5G 1X8, ONTARIO, CANADA
BECKER, LE
;
CHAN, FW
论文数:
0
引用数:
0
h-index:
0
机构:
HOSP SICK CHILDREN, DEPT PATHOL, DIV NEUROPATHOL, 555 UNIV AVE, TORONTO M5G 1X8, ONTARIO, CANADA
CHAN, FW
;
PERRY, TL
论文数:
0
引用数:
0
h-index:
0
机构:
HOSP SICK CHILDREN, DEPT PATHOL, DIV NEUROPATHOL, 555 UNIV AVE, TORONTO M5G 1X8, ONTARIO, CANADA
PERRY, TL
.
NEUROLOGY,
1991,
41
(03)
:416
-422
[3]
UBE3A/E6-AP mutations cause Angelman syndrome
[J].
Kishino, T
论文数:
0
引用数:
0
h-index:
0
机构:
CHILDRENS HOSP,DIV GENET,BOSTON,MA 02115
Kishino, T
;
Lalande, M
论文数:
0
引用数:
0
h-index:
0
机构:
CHILDRENS HOSP,DIV GENET,BOSTON,MA 02115
Lalande, M
;
Wagstaff, J
论文数:
0
引用数:
0
h-index:
0
机构:
CHILDRENS HOSP,DIV GENET,BOSTON,MA 02115
Wagstaff, J
.
NATURE GENETICS,
1997,
15
(01)
:70
-73
[4]
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
[J].
Matsuura, T
论文数:
0
引用数:
0
h-index:
0
机构:
BAYLOR COLL MED,DEPT MOL & HUMAN GENET,HOWARD HUGHES MED INST,HOUSTON,TX 77030
Matsuura, T
;
Sutcliffe, JS
论文数:
0
引用数:
0
h-index:
0
机构:
BAYLOR COLL MED,DEPT MOL & HUMAN GENET,HOWARD HUGHES MED INST,HOUSTON,TX 77030
Sutcliffe, JS
;
Fang, P
论文数:
0
引用数:
0
h-index:
0
机构:
BAYLOR COLL MED,DEPT MOL & HUMAN GENET,HOWARD HUGHES MED INST,HOUSTON,TX 77030
Fang, P
;
Galjaard, RJ
论文数:
0
引用数:
0
h-index:
0
机构:
BAYLOR COLL MED,DEPT MOL & HUMAN GENET,HOWARD HUGHES MED INST,HOUSTON,TX 77030
Galjaard, RJ
;
Jiang, YH
论文数:
0
引用数:
0
h-index:
0
机构:
BAYLOR COLL MED,DEPT MOL & HUMAN GENET,HOWARD HUGHES MED INST,HOUSTON,TX 77030
Jiang, YH
;
Benton, CS
论文数:
0
引用数:
0
h-index:
0
机构:
BAYLOR COLL MED,DEPT MOL & HUMAN GENET,HOWARD HUGHES MED INST,HOUSTON,TX 77030
Benton, CS
;
Rommens, JM
论文数:
0
引用数:
0
h-index:
0
机构:
BAYLOR COLL MED,DEPT MOL & HUMAN GENET,HOWARD HUGHES MED INST,HOUSTON,TX 77030
Rommens, JM
;
Beaudet, AL
论文数:
0
引用数:
0
h-index:
0
机构:
BAYLOR COLL MED,DEPT MOL & HUMAN GENET,HOWARD HUGHES MED INST,HOUSTON,TX 77030
Beaudet, AL
.
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)
[J].
NAKAO, M
论文数:
0
引用数:
0
h-index:
0
机构:
BAYLOR COLL MED,INST MOLEC GENET,HOUSTON,TX 77030
NAKAO, M
;
SUTCLIFFE, JS
论文数:
0
引用数:
0
h-index:
0
机构:
BAYLOR COLL MED,INST MOLEC GENET,HOUSTON,TX 77030
SUTCLIFFE, JS
;
DURTSCHI, B
论文数:
0
引用数:
0
h-index:
0
机构:
BAYLOR COLL MED,INST MOLEC GENET,HOUSTON,TX 77030
DURTSCHI, B
;
MUTIRANGURA, A
论文数:
0
引用数:
0
h-index:
0
机构:
BAYLOR COLL MED,INST MOLEC GENET,HOUSTON,TX 77030
MUTIRANGURA, A
;
LEDBETTER, DH
论文数:
0
引用数:
0
h-index:
0
机构:
BAYLOR COLL MED,INST MOLEC GENET,HOUSTON,TX 77030
LEDBETTER, DH
;
BEAUDET, AL
论文数:
0
引用数:
0
h-index:
0
机构:
BAYLOR COLL MED,INST MOLEC GENET,HOUSTON,TX 77030
BEAUDET, AL
.
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
[J].
SadouletPuccio, HM
论文数:
0
引用数:
0
h-index:
0
机构:
HARVARD UNIV,SCH MED,DEPT GENET,BOSTON,MA 02115
SadouletPuccio, HM
;
Khurana, TS
论文数:
0
引用数:
0
h-index:
0
机构:
HARVARD UNIV,SCH MED,DEPT GENET,BOSTON,MA 02115
Khurana, TS
;
Cohen, JB
论文数:
0
引用数:
0
h-index:
0
机构:
HARVARD UNIV,SCH MED,DEPT GENET,BOSTON,MA 02115
Cohen, JB
;
Kunkel, LM
论文数:
0
引用数:
0
h-index:
0
机构:
HARVARD UNIV,SCH MED,DEPT GENET,BOSTON,MA 02115
Kunkel, LM
.
HUMAN MOLECULAR GENETICS,
1996,
5
(04)
:489
-496
[7]
The human E6-AP gene (UBE3A) encodes three potential protein isoforms generated by differential splicing
[J].
Yamamoto, Y
论文数:
0
引用数:
0
h-index:
0
机构:
HARVARD UNIV,SCH MED,DEPT PATHOL,BOSTON,MA 02115
HARVARD UNIV,SCH MED,DEPT PATHOL,BOSTON,MA 02115
Yamamoto, Y
;
Huibregtse, JM
论文数:
0
引用数:
0
h-index:
0
机构:
HARVARD UNIV,SCH MED,DEPT PATHOL,BOSTON,MA 02115
HARVARD UNIV,SCH MED,DEPT PATHOL,BOSTON,MA 02115
Huibregtse, JM
;
Howley, PM
论文数:
0
引用数:
0
h-index:
0
机构:
HARVARD UNIV,SCH MED,DEPT PATHOL,BOSTON,MA 02115
HARVARD UNIV,SCH MED,DEPT PATHOL,BOSTON,MA 02115
Howley, PM
.
GENOMICS,
1997,
41
(02)
:263
-266
←
1
→