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PAX6 missense mutation in isolated foveal hypoplasia
被引:148
作者
:
Azuma, N
论文数:
0
引用数:
0
h-index:
0
机构:
NATL CHILDRENS MED RES CTR,SETAGAYA KU,TOKYO 154,JAPAN
NATL CHILDRENS MED RES CTR,SETAGAYA KU,TOKYO 154,JAPAN
Azuma, N
[
1
]
Nishina, S
论文数:
0
引用数:
0
h-index:
0
机构:
NATL CHILDRENS MED RES CTR,SETAGAYA KU,TOKYO 154,JAPAN
NATL CHILDRENS MED RES CTR,SETAGAYA KU,TOKYO 154,JAPAN
Nishina, S
[
1
]
机构
:
[1]
NATL CHILDRENS MED RES CTR,SETAGAYA KU,TOKYO 154,JAPAN
来源
:
NATURE GENETICS
|
1996年
/ 13卷
/ 02期
关键词
:
D O I
:
10.1038/ng0696-141
中图分类号
:
Q3 [遗传学];
学科分类号
:
071007 ;
090102 ;
摘要
:
[No abstract available]
引用
收藏
页码:141 / 142
页数:2
相关论文
共 17 条
[1]
CONSERVATION OF A LARGE PROTEIN DOMAIN IN THE SEGMENTATION GENE PAIRED AND IN FUNCTIONALLY RELATED GENES OF DROSOPHILA
BOPP, D
论文数:
0
引用数:
0
h-index:
0
BOPP, D
BURRI, M
论文数:
0
引用数:
0
h-index:
0
BURRI, M
BAUMGARTNER, S
论文数:
0
引用数:
0
h-index:
0
BAUMGARTNER, S
FRIGERIO, G
论文数:
0
引用数:
0
h-index:
0
FRIGERIO, G
NOLL, M
论文数:
0
引用数:
0
h-index:
0
NOLL, M
[J].
CELL,
1986,
47
(06)
: 1033
-
1040
[2]
CURRAN RE, 1976, ARCH OPHTHALMOL-CHIC, V94, P48
[3]
DNA-SEQUENCE RECOGNITION BY PAX PROTEINS - BIPARTITE STRUCTURE OF THE PAIRED DOMAIN AND ITS BINDING-SITE
CZERNY, T
论文数:
0
引用数:
0
h-index:
0
机构:
RES INST MOLEC PATHOL,DR BOHR GASSE 7,A-1030 VIENNA,AUSTRIA
RES INST MOLEC PATHOL,DR BOHR GASSE 7,A-1030 VIENNA,AUSTRIA
CZERNY, T
SCHAFFNER, G
论文数:
0
引用数:
0
h-index:
0
机构:
RES INST MOLEC PATHOL,DR BOHR GASSE 7,A-1030 VIENNA,AUSTRIA
RES INST MOLEC PATHOL,DR BOHR GASSE 7,A-1030 VIENNA,AUSTRIA
SCHAFFNER, G
BUSSLINGER, M
论文数:
0
引用数:
0
h-index:
0
机构:
RES INST MOLEC PATHOL,DR BOHR GASSE 7,A-1030 VIENNA,AUSTRIA
RES INST MOLEC PATHOL,DR BOHR GASSE 7,A-1030 VIENNA,AUSTRIA
BUSSLINGER, M
[J].
GENES & DEVELOPMENT,
1993,
7
(10)
: 2048
-
2061
[4]
EPSTEIN J, 1994, J BIOL CHEM, V269, P8355
[5]
2 INDEPENDENT AND INTERACTIVE DNA-BINDING SUBDOMAINS OF THE PAX6 PAIRED DOMAIN ARE REGULATED BY ALTERNATIVE SPLICING
EPSTEIN, JA
论文数:
0
引用数:
0
h-index:
0
机构:
HARVARD UNIV,SCH MED,DEPT MED,DIV GENET,BOSTON,MA 02115
EPSTEIN, JA
GLASER, T
论文数:
0
引用数:
0
h-index:
0
机构:
HARVARD UNIV,SCH MED,DEPT MED,DIV GENET,BOSTON,MA 02115
GLASER, T
CAI, JX
论文数:
0
引用数:
0
h-index:
0
机构:
HARVARD UNIV,SCH MED,DEPT MED,DIV GENET,BOSTON,MA 02115
CAI, JX
JEPEAL, L
论文数:
0
引用数:
0
h-index:
0
机构:
HARVARD UNIV,SCH MED,DEPT MED,DIV GENET,BOSTON,MA 02115
JEPEAL, L
WALTON, DS
论文数:
0
引用数:
0
h-index:
0
机构:
HARVARD UNIV,SCH MED,DEPT MED,DIV GENET,BOSTON,MA 02115
WALTON, DS
MAAS, RL
论文数:
0
引用数:
0
h-index:
0
机构:
HARVARD UNIV,SCH MED,DEPT MED,DIV GENET,BOSTON,MA 02115
MAAS, RL
[J].
GENES & DEVELOPMENT,
1994,
8
(17)
: 2022
-
2034
[6]
FRANCOIS J, 1961, HEREDITY OPHTHALMOLO, V153
[7]
GENOMIC STRUCTURE, EVOLUTIONARY CONSERVATION AND ANIRIDIA MUTATIONS IN THE HUMAN PAX6 GENE
GLASER, T
论文数:
0
引用数:
0
h-index:
0
机构:
HARVARD UNIV, BRIGHAM & WOMENS HOSP,SCH MED,DEPT MED,DIV GENET, BOSTON, MA 02115 USA
GLASER, T
WALTON, DS
论文数:
0
引用数:
0
h-index:
0
机构:
HARVARD UNIV, BRIGHAM & WOMENS HOSP,SCH MED,DEPT MED,DIV GENET, BOSTON, MA 02115 USA
WALTON, DS
MAAS, RL
论文数:
0
引用数:
0
h-index:
0
机构:
HARVARD UNIV, BRIGHAM & WOMENS HOSP,SCH MED,DEPT MED,DIV GENET, BOSTON, MA 02115 USA
MAAS, RL
[J].
NATURE GENETICS,
1992,
2
(03)
: 232
-
239
[8]
MUTATIONS AT THE PAX6 LOCUS ARE FOUND IN HETEROGENEOUS ANTERIOR SEGMENT MALFORMATIONS INCLUDING PETERS ANOMALY
HANSON, IM
论文数:
0
引用数:
0
h-index:
0
机构:
WESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLAND
HANSON, IM
FLETCHER, JM
论文数:
0
引用数:
0
h-index:
0
机构:
WESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLAND
FLETCHER, JM
JORDAN, T
论文数:
0
引用数:
0
h-index:
0
机构:
WESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLAND
JORDAN, T
BROWN, A
论文数:
0
引用数:
0
h-index:
0
机构:
WESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLAND
BROWN, A
TAYLOR, D
论文数:
0
引用数:
0
h-index:
0
机构:
WESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLAND
TAYLOR, D
ADAMS, RJ
论文数:
0
引用数:
0
h-index:
0
机构:
WESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLAND
ADAMS, RJ
PUNNETT, HH
论文数:
0
引用数:
0
h-index:
0
机构:
WESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLAND
PUNNETT, HH
VANHEYNINGEN, V
论文数:
0
引用数:
0
h-index:
0
机构:
WESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLAND
VANHEYNINGEN, V
[J].
NATURE GENETICS,
1994,
6
(02)
: 168
-
173
[9]
MARTHA A, 1994, AM J HUM GENET, V54, P801
[10]
AUTOSOMAL DOMINANT FOVEAL HYPOPLASIA AND PRESENILE CATARACTS - A NEW SYNDROME
ODONNELL, FE
论文数:
0
引用数:
0
h-index:
0
机构:
JOHNS HOPKINS MED INST,WILMER OPHTHALMOL INST,BALTIMORE,MD 21205
JOHNS HOPKINS MED INST,WILMER OPHTHALMOL INST,BALTIMORE,MD 21205
ODONNELL, FE
PAPPAS, HR
论文数:
0
引用数:
0
h-index:
0
机构:
JOHNS HOPKINS MED INST,WILMER OPHTHALMOL INST,BALTIMORE,MD 21205
JOHNS HOPKINS MED INST,WILMER OPHTHALMOL INST,BALTIMORE,MD 21205
PAPPAS, HR
[J].
ARCHIVES OF OPHTHALMOLOGY,
1982,
100
(02)
: 279
-
281
←
1
2
→
共 17 条
[1]
CONSERVATION OF A LARGE PROTEIN DOMAIN IN THE SEGMENTATION GENE PAIRED AND IN FUNCTIONALLY RELATED GENES OF DROSOPHILA
BOPP, D
论文数:
0
引用数:
0
h-index:
0
BOPP, D
BURRI, M
论文数:
0
引用数:
0
h-index:
0
BURRI, M
BAUMGARTNER, S
论文数:
0
引用数:
0
h-index:
0
BAUMGARTNER, S
FRIGERIO, G
论文数:
0
引用数:
0
h-index:
0
FRIGERIO, G
NOLL, M
论文数:
0
引用数:
0
h-index:
0
NOLL, M
[J].
CELL,
1986,
47
(06)
: 1033
-
1040
[2]
CURRAN RE, 1976, ARCH OPHTHALMOL-CHIC, V94, P48
[3]
DNA-SEQUENCE RECOGNITION BY PAX PROTEINS - BIPARTITE STRUCTURE OF THE PAIRED DOMAIN AND ITS BINDING-SITE
CZERNY, T
论文数:
0
引用数:
0
h-index:
0
机构:
RES INST MOLEC PATHOL,DR BOHR GASSE 7,A-1030 VIENNA,AUSTRIA
RES INST MOLEC PATHOL,DR BOHR GASSE 7,A-1030 VIENNA,AUSTRIA
CZERNY, T
SCHAFFNER, G
论文数:
0
引用数:
0
h-index:
0
机构:
RES INST MOLEC PATHOL,DR BOHR GASSE 7,A-1030 VIENNA,AUSTRIA
RES INST MOLEC PATHOL,DR BOHR GASSE 7,A-1030 VIENNA,AUSTRIA
SCHAFFNER, G
BUSSLINGER, M
论文数:
0
引用数:
0
h-index:
0
机构:
RES INST MOLEC PATHOL,DR BOHR GASSE 7,A-1030 VIENNA,AUSTRIA
RES INST MOLEC PATHOL,DR BOHR GASSE 7,A-1030 VIENNA,AUSTRIA
BUSSLINGER, M
[J].
GENES & DEVELOPMENT,
1993,
7
(10)
: 2048
-
2061
[4]
EPSTEIN J, 1994, J BIOL CHEM, V269, P8355
[5]
2 INDEPENDENT AND INTERACTIVE DNA-BINDING SUBDOMAINS OF THE PAX6 PAIRED DOMAIN ARE REGULATED BY ALTERNATIVE SPLICING
EPSTEIN, JA
论文数:
0
引用数:
0
h-index:
0
机构:
HARVARD UNIV,SCH MED,DEPT MED,DIV GENET,BOSTON,MA 02115
EPSTEIN, JA
GLASER, T
论文数:
0
引用数:
0
h-index:
0
机构:
HARVARD UNIV,SCH MED,DEPT MED,DIV GENET,BOSTON,MA 02115
GLASER, T
CAI, JX
论文数:
0
引用数:
0
h-index:
0
机构:
HARVARD UNIV,SCH MED,DEPT MED,DIV GENET,BOSTON,MA 02115
CAI, JX
JEPEAL, L
论文数:
0
引用数:
0
h-index:
0
机构:
HARVARD UNIV,SCH MED,DEPT MED,DIV GENET,BOSTON,MA 02115
JEPEAL, L
WALTON, DS
论文数:
0
引用数:
0
h-index:
0
机构:
HARVARD UNIV,SCH MED,DEPT MED,DIV GENET,BOSTON,MA 02115
WALTON, DS
MAAS, RL
论文数:
0
引用数:
0
h-index:
0
机构:
HARVARD UNIV,SCH MED,DEPT MED,DIV GENET,BOSTON,MA 02115
MAAS, RL
[J].
GENES & DEVELOPMENT,
1994,
8
(17)
: 2022
-
2034
[6]
FRANCOIS J, 1961, HEREDITY OPHTHALMOLO, V153
[7]
GENOMIC STRUCTURE, EVOLUTIONARY CONSERVATION AND ANIRIDIA MUTATIONS IN THE HUMAN PAX6 GENE
GLASER, T
论文数:
0
引用数:
0
h-index:
0
机构:
HARVARD UNIV, BRIGHAM & WOMENS HOSP,SCH MED,DEPT MED,DIV GENET, BOSTON, MA 02115 USA
GLASER, T
WALTON, DS
论文数:
0
引用数:
0
h-index:
0
机构:
HARVARD UNIV, BRIGHAM & WOMENS HOSP,SCH MED,DEPT MED,DIV GENET, BOSTON, MA 02115 USA
WALTON, DS
MAAS, RL
论文数:
0
引用数:
0
h-index:
0
机构:
HARVARD UNIV, BRIGHAM & WOMENS HOSP,SCH MED,DEPT MED,DIV GENET, BOSTON, MA 02115 USA
MAAS, RL
[J].
NATURE GENETICS,
1992,
2
(03)
: 232
-
239
[8]
MUTATIONS AT THE PAX6 LOCUS ARE FOUND IN HETEROGENEOUS ANTERIOR SEGMENT MALFORMATIONS INCLUDING PETERS ANOMALY
HANSON, IM
论文数:
0
引用数:
0
h-index:
0
机构:
WESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLAND
HANSON, IM
FLETCHER, JM
论文数:
0
引用数:
0
h-index:
0
机构:
WESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLAND
FLETCHER, JM
JORDAN, T
论文数:
0
引用数:
0
h-index:
0
机构:
WESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLAND
JORDAN, T
BROWN, A
论文数:
0
引用数:
0
h-index:
0
机构:
WESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLAND
BROWN, A
TAYLOR, D
论文数:
0
引用数:
0
h-index:
0
机构:
WESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLAND
TAYLOR, D
ADAMS, RJ
论文数:
0
引用数:
0
h-index:
0
机构:
WESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLAND
ADAMS, RJ
PUNNETT, HH
论文数:
0
引用数:
0
h-index:
0
机构:
WESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLAND
PUNNETT, HH
VANHEYNINGEN, V
论文数:
0
引用数:
0
h-index:
0
机构:
WESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLAND
VANHEYNINGEN, V
[J].
NATURE GENETICS,
1994,
6
(02)
: 168
-
173
[9]
MARTHA A, 1994, AM J HUM GENET, V54, P801
[10]
AUTOSOMAL DOMINANT FOVEAL HYPOPLASIA AND PRESENILE CATARACTS - A NEW SYNDROME
ODONNELL, FE
论文数:
0
引用数:
0
h-index:
0
机构:
JOHNS HOPKINS MED INST,WILMER OPHTHALMOL INST,BALTIMORE,MD 21205
JOHNS HOPKINS MED INST,WILMER OPHTHALMOL INST,BALTIMORE,MD 21205
ODONNELL, FE
PAPPAS, HR
论文数:
0
引用数:
0
h-index:
0
机构:
JOHNS HOPKINS MED INST,WILMER OPHTHALMOL INST,BALTIMORE,MD 21205
JOHNS HOPKINS MED INST,WILMER OPHTHALMOL INST,BALTIMORE,MD 21205
PAPPAS, HR
[J].
ARCHIVES OF OPHTHALMOLOGY,
1982,
100
(02)
: 279
-
281
←
1
2
→