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A MISSENSE MUTATION CONFIRMS THE L1 DEFECT IN X-LINKED HYDROCEPHALUS (HSAS)
被引:64
作者
:
JOUET, M
论文数:
0
引用数:
0
h-index:
0
机构:
ST MARYS HOSP,MANCHESTER M13 0JH,LANCS,ENGLAND
ST MARYS HOSP,MANCHESTER M13 0JH,LANCS,ENGLAND
JOUET, M
[
1
]
ROSENTHAL, A
论文数:
0
引用数:
0
h-index:
0
机构:
ST MARYS HOSP,MANCHESTER M13 0JH,LANCS,ENGLAND
ST MARYS HOSP,MANCHESTER M13 0JH,LANCS,ENGLAND
ROSENTHAL, A
[
1
]
MACFARLANE, J
论文数:
0
引用数:
0
h-index:
0
机构:
ST MARYS HOSP,MANCHESTER M13 0JH,LANCS,ENGLAND
ST MARYS HOSP,MANCHESTER M13 0JH,LANCS,ENGLAND
MACFARLANE, J
[
1
]
KENWRICK, S
论文数:
0
引用数:
0
h-index:
0
机构:
ST MARYS HOSP,MANCHESTER M13 0JH,LANCS,ENGLAND
ST MARYS HOSP,MANCHESTER M13 0JH,LANCS,ENGLAND
KENWRICK, S
[
1
]
DONNAI, D
论文数:
0
引用数:
0
h-index:
0
机构:
ST MARYS HOSP,MANCHESTER M13 0JH,LANCS,ENGLAND
ST MARYS HOSP,MANCHESTER M13 0JH,LANCS,ENGLAND
DONNAI, D
[
1
]
机构
:
[1]
ST MARYS HOSP,MANCHESTER M13 0JH,LANCS,ENGLAND
来源
:
NATURE GENETICS
|
1993年
/ 4卷
/ 04期
关键词
:
D O I
:
10.1038/ng0893-331
中图分类号
:
Q3 [遗传学];
学科分类号
:
071007 ;
090102 ;
摘要
:
引用
收藏
页码:331 / 331
页数:1
相关论文
共 9 条
[1]
DROSOPHILA NEUROGLIAN - A MEMBER OF THE IMMUNOGLOBULIN SUPERFAMILY WITH EXTENSIVE HOMOLOGY TO THE VERTEBRATE NEURAL ADHESION MOLECULE L1
[J].
BIEBER, AJ
论文数:
0
引用数:
0
h-index:
0
机构:
CALIF BIOTECHNOL INC,MT VIEW,CA 94043
BIEBER, AJ
;
SNOW, PM
论文数:
0
引用数:
0
h-index:
0
机构:
CALIF BIOTECHNOL INC,MT VIEW,CA 94043
SNOW, PM
;
HORTSCH, M
论文数:
0
引用数:
0
h-index:
0
机构:
CALIF BIOTECHNOL INC,MT VIEW,CA 94043
HORTSCH, M
;
PATEL, NH
论文数:
0
引用数:
0
h-index:
0
机构:
CALIF BIOTECHNOL INC,MT VIEW,CA 94043
PATEL, NH
;
JACOBS, JR
论文数:
0
引用数:
0
h-index:
0
机构:
CALIF BIOTECHNOL INC,MT VIEW,CA 94043
JACOBS, JR
;
TRAQUINA, ZR
论文数:
0
引用数:
0
h-index:
0
机构:
CALIF BIOTECHNOL INC,MT VIEW,CA 94043
TRAQUINA, ZR
;
SCHILLING, J
论文数:
0
引用数:
0
h-index:
0
机构:
CALIF BIOTECHNOL INC,MT VIEW,CA 94043
SCHILLING, J
;
GOODMAN, CS
论文数:
0
引用数:
0
h-index:
0
机构:
CALIF BIOTECHNOL INC,MT VIEW,CA 94043
GOODMAN, CS
.
CELL,
1989,
59
(03)
:447
-460
[2]
STRUCTURE OF THE CHICKEN NEURON-GLIA CELL-ADHESION MOLECULE, NG-CAM - ORIGIN OF THE POLYPEPTIDES AND RELATION TO THE IG SUPERFAMILY
[J].
BURGOON, MP
论文数:
0
引用数:
0
h-index:
0
BURGOON, MP
;
GRUMET, M
论文数:
0
引用数:
0
h-index:
0
GRUMET, M
;
MAURO, V
论文数:
0
引用数:
0
h-index:
0
MAURO, V
;
EDELMAN, GM
论文数:
0
引用数:
0
h-index:
0
EDELMAN, GM
;
CUNNINGHAM, BA
论文数:
0
引用数:
0
h-index:
0
CUNNINGHAM, BA
.
JOURNAL OF CELL BIOLOGY,
1991,
112
(05)
:1017
-1029
[3]
MOLECULAR-STRUCTURE AND FUNCTIONAL TESTING OF HUMAN L1CAM - AN INTERSPECIES COMPARISON
[J].
HLAVIN, ML
论文数:
0
引用数:
0
h-index:
0
机构:
CASE WESTERN RESERVE UNIV,DEPT NEUROSCI,CLEVELAND,OH 44106
CASE WESTERN RESERVE UNIV,DEPT NEUROSCI,CLEVELAND,OH 44106
HLAVIN, ML
;
LEMMON, V
论文数:
0
引用数:
0
h-index:
0
机构:
CASE WESTERN RESERVE UNIV,DEPT NEUROSCI,CLEVELAND,OH 44106
CASE WESTERN RESERVE UNIV,DEPT NEUROSCI,CLEVELAND,OH 44106
LEMMON, V
.
GENOMICS,
1991,
11
(02)
:416
-423
[4]
JOUET M, 1993, J MED GENET, P214
[5]
MOLECULAR-CLONING OF CDNA-ENCODING THE RAT NEURAL CELL-ADHESION MOLECULE L1 - 2 L1 ISOFORMS IN THE CYTOPLASMIC REGION ARE PRODUCED BY DIFFERENTIAL SPLICING
[J].
MIURA, M
论文数:
0
引用数:
0
h-index:
0
机构:
Department of Physiology, Keio University School of Medicine, Shinjukuku, Tokyo, 160
MIURA, M
;
KOBAYASHI, M
论文数:
0
引用数:
0
h-index:
0
机构:
Department of Physiology, Keio University School of Medicine, Shinjukuku, Tokyo, 160
KOBAYASHI, M
;
ASOU, H
论文数:
0
引用数:
0
h-index:
0
机构:
Department of Physiology, Keio University School of Medicine, Shinjukuku, Tokyo, 160
ASOU, H
;
UYEMURA, K
论文数:
0
引用数:
0
h-index:
0
机构:
Department of Physiology, Keio University School of Medicine, Shinjukuku, Tokyo, 160
UYEMURA, K
.
FEBS LETTERS,
1991,
289
(01)
:91
-95
[6]
NEURAL ADHESION MOLECULE L1 AS A MEMBER OF THE IMMUNOGLOBULIN SUPERFAMILY WITH BINDING DOMAINS SIMILAR TO FIBRONECTIN
[J].
MOOS, M
论文数:
0
引用数:
0
h-index:
0
机构:
CALTECH, DIV BIOL 14775, PASADENA, CA 91125 USA
CALTECH, DIV BIOL 14775, PASADENA, CA 91125 USA
MOOS, M
;
TACKE, R
论文数:
0
引用数:
0
h-index:
0
机构:
CALTECH, DIV BIOL 14775, PASADENA, CA 91125 USA
CALTECH, DIV BIOL 14775, PASADENA, CA 91125 USA
TACKE, R
;
SCHERER, H
论文数:
0
引用数:
0
h-index:
0
机构:
CALTECH, DIV BIOL 14775, PASADENA, CA 91125 USA
CALTECH, DIV BIOL 14775, PASADENA, CA 91125 USA
SCHERER, H
;
TEPLOW, D
论文数:
0
引用数:
0
h-index:
0
机构:
CALTECH, DIV BIOL 14775, PASADENA, CA 91125 USA
CALTECH, DIV BIOL 14775, PASADENA, CA 91125 USA
TEPLOW, D
;
FRUH, K
论文数:
0
引用数:
0
h-index:
0
机构:
CALTECH, DIV BIOL 14775, PASADENA, CA 91125 USA
CALTECH, DIV BIOL 14775, PASADENA, CA 91125 USA
FRUH, K
;
SCHACHNER, M
论文数:
0
引用数:
0
h-index:
0
机构:
CALTECH, DIV BIOL 14775, PASADENA, CA 91125 USA
CALTECH, DIV BIOL 14775, PASADENA, CA 91125 USA
SCHACHNER, M
.
NATURE,
1988,
334
(6184)
:701
-703
[7]
ABERRANT SPLICING OF NEURAL CELL-ADHESION MOLECULE L1 MESSENGER-RNA IN A FAMILY WITH X-LINKED HYDROCEPHALUS
[J].
ROSENTHAL, A
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CAMBRIDGE,ADDENBROOKES HOSP,DEPT MED,CAMBRIDGE CB2 2QQ,ENGLAND
UNIV CAMBRIDGE,ADDENBROOKES HOSP,DEPT MED,CAMBRIDGE CB2 2QQ,ENGLAND
ROSENTHAL, A
;
JOUET, M
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CAMBRIDGE,ADDENBROOKES HOSP,DEPT MED,CAMBRIDGE CB2 2QQ,ENGLAND
UNIV CAMBRIDGE,ADDENBROOKES HOSP,DEPT MED,CAMBRIDGE CB2 2QQ,ENGLAND
JOUET, M
;
KENWRICK, S
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CAMBRIDGE,ADDENBROOKES HOSP,DEPT MED,CAMBRIDGE CB2 2QQ,ENGLAND
UNIV CAMBRIDGE,ADDENBROOKES HOSP,DEPT MED,CAMBRIDGE CB2 2QQ,ENGLAND
KENWRICK, S
.
NATURE GENETICS,
1992,
2
(02)
:107
-112
[8]
REGULATION OF AXONAL GROWTH IN THE VERTEBRATE NERVOUS-SYSTEM BY INTERACTIONS BETWEEN GLYCOPROTEINS BELONGING TO 2 SUBGROUPS OF THE IMMUNOGLOBULIN SUPERFAMILY
[J].
SONDEREGGER, P
论文数:
0
引用数:
0
h-index:
0
机构:
ZENTRUM MOLEK NEUROBIOL, W-2000 HAMBURG, GERMANY
ZENTRUM MOLEK NEUROBIOL, W-2000 HAMBURG, GERMANY
SONDEREGGER, P
;
RATHJEN, FG
论文数:
0
引用数:
0
h-index:
0
机构:
ZENTRUM MOLEK NEUROBIOL, W-2000 HAMBURG, GERMANY
ZENTRUM MOLEK NEUROBIOL, W-2000 HAMBURG, GERMANY
RATHJEN, FG
.
JOURNAL OF CELL BIOLOGY,
1992,
119
(06)
:1387
-1394
[9]
X-LINKED HYDROCEPHALUS
[J].
WILLEMS, PJ
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HOSP GRONINGEN,DEPT HUMAN GENET,GRONINGEN,NETHERLANDS
WILLEMS, PJ
;
BROUWER, OF
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HOSP GRONINGEN,DEPT HUMAN GENET,GRONINGEN,NETHERLANDS
BROUWER, OF
;
DIJKSTRA, I
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HOSP GRONINGEN,DEPT HUMAN GENET,GRONINGEN,NETHERLANDS
DIJKSTRA, I
;
WILMINK, J
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HOSP GRONINGEN,DEPT HUMAN GENET,GRONINGEN,NETHERLANDS
WILMINK, J
.
AMERICAN JOURNAL OF MEDICAL GENETICS,
1987,
27
(04)
:921
-928
←
1
→
共 9 条
[1]
DROSOPHILA NEUROGLIAN - A MEMBER OF THE IMMUNOGLOBULIN SUPERFAMILY WITH EXTENSIVE HOMOLOGY TO THE VERTEBRATE NEURAL ADHESION MOLECULE L1
[J].
BIEBER, AJ
论文数:
0
引用数:
0
h-index:
0
机构:
CALIF BIOTECHNOL INC,MT VIEW,CA 94043
BIEBER, AJ
;
SNOW, PM
论文数:
0
引用数:
0
h-index:
0
机构:
CALIF BIOTECHNOL INC,MT VIEW,CA 94043
SNOW, PM
;
HORTSCH, M
论文数:
0
引用数:
0
h-index:
0
机构:
CALIF BIOTECHNOL INC,MT VIEW,CA 94043
HORTSCH, M
;
PATEL, NH
论文数:
0
引用数:
0
h-index:
0
机构:
CALIF BIOTECHNOL INC,MT VIEW,CA 94043
PATEL, NH
;
JACOBS, JR
论文数:
0
引用数:
0
h-index:
0
机构:
CALIF BIOTECHNOL INC,MT VIEW,CA 94043
JACOBS, JR
;
TRAQUINA, ZR
论文数:
0
引用数:
0
h-index:
0
机构:
CALIF BIOTECHNOL INC,MT VIEW,CA 94043
TRAQUINA, ZR
;
SCHILLING, J
论文数:
0
引用数:
0
h-index:
0
机构:
CALIF BIOTECHNOL INC,MT VIEW,CA 94043
SCHILLING, J
;
GOODMAN, CS
论文数:
0
引用数:
0
h-index:
0
机构:
CALIF BIOTECHNOL INC,MT VIEW,CA 94043
GOODMAN, CS
.
CELL,
1989,
59
(03)
:447
-460
[2]
STRUCTURE OF THE CHICKEN NEURON-GLIA CELL-ADHESION MOLECULE, NG-CAM - ORIGIN OF THE POLYPEPTIDES AND RELATION TO THE IG SUPERFAMILY
[J].
BURGOON, MP
论文数:
0
引用数:
0
h-index:
0
BURGOON, MP
;
GRUMET, M
论文数:
0
引用数:
0
h-index:
0
GRUMET, M
;
MAURO, V
论文数:
0
引用数:
0
h-index:
0
MAURO, V
;
EDELMAN, GM
论文数:
0
引用数:
0
h-index:
0
EDELMAN, GM
;
CUNNINGHAM, BA
论文数:
0
引用数:
0
h-index:
0
CUNNINGHAM, BA
.
JOURNAL OF CELL BIOLOGY,
1991,
112
(05)
:1017
-1029
[3]
MOLECULAR-STRUCTURE AND FUNCTIONAL TESTING OF HUMAN L1CAM - AN INTERSPECIES COMPARISON
[J].
HLAVIN, ML
论文数:
0
引用数:
0
h-index:
0
机构:
CASE WESTERN RESERVE UNIV,DEPT NEUROSCI,CLEVELAND,OH 44106
CASE WESTERN RESERVE UNIV,DEPT NEUROSCI,CLEVELAND,OH 44106
HLAVIN, ML
;
LEMMON, V
论文数:
0
引用数:
0
h-index:
0
机构:
CASE WESTERN RESERVE UNIV,DEPT NEUROSCI,CLEVELAND,OH 44106
CASE WESTERN RESERVE UNIV,DEPT NEUROSCI,CLEVELAND,OH 44106
LEMMON, V
.
GENOMICS,
1991,
11
(02)
:416
-423
[4]
JOUET M, 1993, J MED GENET, P214
[5]
MOLECULAR-CLONING OF CDNA-ENCODING THE RAT NEURAL CELL-ADHESION MOLECULE L1 - 2 L1 ISOFORMS IN THE CYTOPLASMIC REGION ARE PRODUCED BY DIFFERENTIAL SPLICING
[J].
MIURA, M
论文数:
0
引用数:
0
h-index:
0
机构:
Department of Physiology, Keio University School of Medicine, Shinjukuku, Tokyo, 160
MIURA, M
;
KOBAYASHI, M
论文数:
0
引用数:
0
h-index:
0
机构:
Department of Physiology, Keio University School of Medicine, Shinjukuku, Tokyo, 160
KOBAYASHI, M
;
ASOU, H
论文数:
0
引用数:
0
h-index:
0
机构:
Department of Physiology, Keio University School of Medicine, Shinjukuku, Tokyo, 160
ASOU, H
;
UYEMURA, K
论文数:
0
引用数:
0
h-index:
0
机构:
Department of Physiology, Keio University School of Medicine, Shinjukuku, Tokyo, 160
UYEMURA, K
.
FEBS LETTERS,
1991,
289
(01)
:91
-95
[6]
NEURAL ADHESION MOLECULE L1 AS A MEMBER OF THE IMMUNOGLOBULIN SUPERFAMILY WITH BINDING DOMAINS SIMILAR TO FIBRONECTIN
[J].
MOOS, M
论文数:
0
引用数:
0
h-index:
0
机构:
CALTECH, DIV BIOL 14775, PASADENA, CA 91125 USA
CALTECH, DIV BIOL 14775, PASADENA, CA 91125 USA
MOOS, M
;
TACKE, R
论文数:
0
引用数:
0
h-index:
0
机构:
CALTECH, DIV BIOL 14775, PASADENA, CA 91125 USA
CALTECH, DIV BIOL 14775, PASADENA, CA 91125 USA
TACKE, R
;
SCHERER, H
论文数:
0
引用数:
0
h-index:
0
机构:
CALTECH, DIV BIOL 14775, PASADENA, CA 91125 USA
CALTECH, DIV BIOL 14775, PASADENA, CA 91125 USA
SCHERER, H
;
TEPLOW, D
论文数:
0
引用数:
0
h-index:
0
机构:
CALTECH, DIV BIOL 14775, PASADENA, CA 91125 USA
CALTECH, DIV BIOL 14775, PASADENA, CA 91125 USA
TEPLOW, D
;
FRUH, K
论文数:
0
引用数:
0
h-index:
0
机构:
CALTECH, DIV BIOL 14775, PASADENA, CA 91125 USA
CALTECH, DIV BIOL 14775, PASADENA, CA 91125 USA
FRUH, K
;
SCHACHNER, M
论文数:
0
引用数:
0
h-index:
0
机构:
CALTECH, DIV BIOL 14775, PASADENA, CA 91125 USA
CALTECH, DIV BIOL 14775, PASADENA, CA 91125 USA
SCHACHNER, M
.
NATURE,
1988,
334
(6184)
:701
-703
[7]
ABERRANT SPLICING OF NEURAL CELL-ADHESION MOLECULE L1 MESSENGER-RNA IN A FAMILY WITH X-LINKED HYDROCEPHALUS
[J].
ROSENTHAL, A
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CAMBRIDGE,ADDENBROOKES HOSP,DEPT MED,CAMBRIDGE CB2 2QQ,ENGLAND
UNIV CAMBRIDGE,ADDENBROOKES HOSP,DEPT MED,CAMBRIDGE CB2 2QQ,ENGLAND
ROSENTHAL, A
;
JOUET, M
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CAMBRIDGE,ADDENBROOKES HOSP,DEPT MED,CAMBRIDGE CB2 2QQ,ENGLAND
UNIV CAMBRIDGE,ADDENBROOKES HOSP,DEPT MED,CAMBRIDGE CB2 2QQ,ENGLAND
JOUET, M
;
KENWRICK, S
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CAMBRIDGE,ADDENBROOKES HOSP,DEPT MED,CAMBRIDGE CB2 2QQ,ENGLAND
UNIV CAMBRIDGE,ADDENBROOKES HOSP,DEPT MED,CAMBRIDGE CB2 2QQ,ENGLAND
KENWRICK, S
.
NATURE GENETICS,
1992,
2
(02)
:107
-112
[8]
REGULATION OF AXONAL GROWTH IN THE VERTEBRATE NERVOUS-SYSTEM BY INTERACTIONS BETWEEN GLYCOPROTEINS BELONGING TO 2 SUBGROUPS OF THE IMMUNOGLOBULIN SUPERFAMILY
[J].
SONDEREGGER, P
论文数:
0
引用数:
0
h-index:
0
机构:
ZENTRUM MOLEK NEUROBIOL, W-2000 HAMBURG, GERMANY
ZENTRUM MOLEK NEUROBIOL, W-2000 HAMBURG, GERMANY
SONDEREGGER, P
;
RATHJEN, FG
论文数:
0
引用数:
0
h-index:
0
机构:
ZENTRUM MOLEK NEUROBIOL, W-2000 HAMBURG, GERMANY
ZENTRUM MOLEK NEUROBIOL, W-2000 HAMBURG, GERMANY
RATHJEN, FG
.
JOURNAL OF CELL BIOLOGY,
1992,
119
(06)
:1387
-1394
[9]
X-LINKED HYDROCEPHALUS
[J].
WILLEMS, PJ
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HOSP GRONINGEN,DEPT HUMAN GENET,GRONINGEN,NETHERLANDS
WILLEMS, PJ
;
BROUWER, OF
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HOSP GRONINGEN,DEPT HUMAN GENET,GRONINGEN,NETHERLANDS
BROUWER, OF
;
DIJKSTRA, I
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HOSP GRONINGEN,DEPT HUMAN GENET,GRONINGEN,NETHERLANDS
DIJKSTRA, I
;
WILMINK, J
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HOSP GRONINGEN,DEPT HUMAN GENET,GRONINGEN,NETHERLANDS
WILMINK, J
.
AMERICAN JOURNAL OF MEDICAL GENETICS,
1987,
27
(04)
:921
-928
←
1
→