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Identification of a 4 bp deletion (1560del4) in Po gene in a family with severe Charcot-Marie-Tooth disease
被引:10
作者
:
Bellone, E
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GENOA, INST G GASLINI, DIV & CATTEDRA NEUROPSICHIATRIA INFANTILE, I-16148 GENOA, ITALY
Bellone, E
Mandich, P
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GENOA, INST G GASLINI, DIV & CATTEDRA NEUROPSICHIATRIA INFANTILE, I-16148 GENOA, ITALY
Mandich, P
James, R
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GENOA, INST G GASLINI, DIV & CATTEDRA NEUROPSICHIATRIA INFANTILE, I-16148 GENOA, ITALY
James, R
Nelis, E
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GENOA, INST G GASLINI, DIV & CATTEDRA NEUROPSICHIATRIA INFANTILE, I-16148 GENOA, ITALY
Nelis, E
Lamba, LD
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GENOA, INST G GASLINI, DIV & CATTEDRA NEUROPSICHIATRIA INFANTILE, I-16148 GENOA, ITALY
Lamba, LD
Van Broeckhoven, C
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GENOA, INST G GASLINI, DIV & CATTEDRA NEUROPSICHIATRIA INFANTILE, I-16148 GENOA, ITALY
Van Broeckhoven, C
Ajmar, F
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GENOA, INST G GASLINI, DIV & CATTEDRA NEUROPSICHIATRIA INFANTILE, I-16148 GENOA, ITALY
Ajmar, F
机构
:
[1]
UNIV GENOA, INST G GASLINI, DIV & CATTEDRA NEUROPSICHIATRIA INFANTILE, I-16148 GENOA, ITALY
[2]
DEPT BIOCHEM, B-2610 ANTWERP, BELGIUM
来源
:
HUMAN MUTATION
|
1996年
/ 7卷
/ 04期
关键词
:
D O I
:
10.1002/humu.1380070403
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:377 / 378
页数:2
相关论文
共 6 条
[1]
DING YG, 1994, J BIOL CHEM, V269, P10764
[2]
MUTATIONS IN DEMYELINATING PERIPHERAL NEUROPATHIES SUPPORT MOLECULAR-MODEL OF MYELIN PO-GLYCOPROTEIN EXTRACELLULAR DOMAIN
KIRSCHNER, DA
论文数:
0
引用数:
0
h-index:
0
机构:
HARVARD UNIV, CHILDRENS HOSP, SCH MED, STUDY SKELETAL DISORDERS LAB, BOSTON, MA 02115 USA
KIRSCHNER, DA
SAAVEDRA, RA
论文数:
0
引用数:
0
h-index:
0
机构:
HARVARD UNIV, CHILDRENS HOSP, SCH MED, STUDY SKELETAL DISORDERS LAB, BOSTON, MA 02115 USA
SAAVEDRA, RA
[J].
JOURNAL OF NEUROSCIENCE RESEARCH,
1994,
39
(01)
: 63
-
69
[3]
THE MAJOR PERIPHERAL MYELIN PROTEIN ZERO GENE - STRUCTURE AND LOCALIZATION IN THE CLUSTER OF FC-GAMMA RECEPTOR GENES ON HUMAN-CHROMOSOME 1Q21.3-Q23
PHAMDINH, D
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV PARIS 06,INST NEUROSCI,EQUIPE ATIPE,CNRS,UNITE 1488,F-75252 PARIS 05,FRANCE
PHAMDINH, D
FOURBIL, Y
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV PARIS 06,INST NEUROSCI,EQUIPE ATIPE,CNRS,UNITE 1488,F-75252 PARIS 05,FRANCE
FOURBIL, Y
BLANQUET, F
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV PARIS 06,INST NEUROSCI,EQUIPE ATIPE,CNRS,UNITE 1488,F-75252 PARIS 05,FRANCE
BLANQUET, F
MATTEI, MG
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV PARIS 06,INST NEUROSCI,EQUIPE ATIPE,CNRS,UNITE 1488,F-75252 PARIS 05,FRANCE
MATTEI, MG
ROECKEL, N
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV PARIS 06,INST NEUROSCI,EQUIPE ATIPE,CNRS,UNITE 1488,F-75252 PARIS 05,FRANCE
ROECKEL, N
LATOUR, P
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV PARIS 06,INST NEUROSCI,EQUIPE ATIPE,CNRS,UNITE 1488,F-75252 PARIS 05,FRANCE
LATOUR, P
CHAZOT, G
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV PARIS 06,INST NEUROSCI,EQUIPE ATIPE,CNRS,UNITE 1488,F-75252 PARIS 05,FRANCE
CHAZOT, G
VANDENBERGHE, A
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV PARIS 06,INST NEUROSCI,EQUIPE ATIPE,CNRS,UNITE 1488,F-75252 PARIS 05,FRANCE
VANDENBERGHE, A
DAUTIGNY, A
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV PARIS 06,INST NEUROSCI,EQUIPE ATIPE,CNRS,UNITE 1488,F-75252 PARIS 05,FRANCE
DAUTIGNY, A
[J].
HUMAN MOLECULAR GENETICS,
1993,
2
(12)
: 2051
-
2054
[4]
IDENTIFICATION OF A DE-NOVO INSERTIONAL MUTATION IN P-O IN A PATIENT WITH A DEJERINE-SOTTAS SYNDROME (DSS) PHENOTYPE
RAUTENSTRAUSS, B
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ANTWERP, BORN BUNGE FDN, DEPT BIOCHEM, NEUROGENET LAB, B-2610 ANTWERP, BELGIUM
RAUTENSTRAUSS, B
NELIS, E
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ANTWERP, BORN BUNGE FDN, DEPT BIOCHEM, NEUROGENET LAB, B-2610 ANTWERP, BELGIUM
NELIS, E
GREHL, H
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ANTWERP, BORN BUNGE FDN, DEPT BIOCHEM, NEUROGENET LAB, B-2610 ANTWERP, BELGIUM
GREHL, H
PFEIFFER, RA
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ANTWERP, BORN BUNGE FDN, DEPT BIOCHEM, NEUROGENET LAB, B-2610 ANTWERP, BELGIUM
PFEIFFER, RA
VAN BROECKHOVEN, C
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ANTWERP, BORN BUNGE FDN, DEPT BIOCHEM, NEUROGENET LAB, B-2610 ANTWERP, BELGIUM
VAN BROECKHOVEN, C
[J].
HUMAN MOLECULAR GENETICS,
1994,
3
(09)
: 1701
-
1702
[5]
CHARCOT-MARIE-TOOTH DISEASE TYPE-1A - ASSOCIATION WITH A SPONTANEOUS POINT MUTATION IN THE PMP22 GENE
ROA, BB
论文数:
0
引用数:
0
h-index:
0
机构:
BAYLOR COLL MED,INST MOLEC GENET,1 BAYLOR PLAZA,HOUSTON,TX 77030
ROA, BB
GARCIA, CA
论文数:
0
引用数:
0
h-index:
0
机构:
BAYLOR COLL MED,INST MOLEC GENET,1 BAYLOR PLAZA,HOUSTON,TX 77030
GARCIA, CA
SUTER, U
论文数:
0
引用数:
0
h-index:
0
机构:
BAYLOR COLL MED,INST MOLEC GENET,1 BAYLOR PLAZA,HOUSTON,TX 77030
SUTER, U
KULPA, DA
论文数:
0
引用数:
0
h-index:
0
机构:
BAYLOR COLL MED,INST MOLEC GENET,1 BAYLOR PLAZA,HOUSTON,TX 77030
KULPA, DA
WISE, CA
论文数:
0
引用数:
0
h-index:
0
机构:
BAYLOR COLL MED,INST MOLEC GENET,1 BAYLOR PLAZA,HOUSTON,TX 77030
WISE, CA
MUELLER, J
论文数:
0
引用数:
0
h-index:
0
机构:
BAYLOR COLL MED,INST MOLEC GENET,1 BAYLOR PLAZA,HOUSTON,TX 77030
MUELLER, J
WELCHER, AA
论文数:
0
引用数:
0
h-index:
0
机构:
BAYLOR COLL MED,INST MOLEC GENET,1 BAYLOR PLAZA,HOUSTON,TX 77030
WELCHER, AA
SNIPES, GJ
论文数:
0
引用数:
0
h-index:
0
机构:
BAYLOR COLL MED,INST MOLEC GENET,1 BAYLOR PLAZA,HOUSTON,TX 77030
SNIPES, GJ
SHOOTER, EM
论文数:
0
引用数:
0
h-index:
0
机构:
BAYLOR COLL MED,INST MOLEC GENET,1 BAYLOR PLAZA,HOUSTON,TX 77030
SHOOTER, EM
PATEL, PI
论文数:
0
引用数:
0
h-index:
0
机构:
BAYLOR COLL MED,INST MOLEC GENET,1 BAYLOR PLAZA,HOUSTON,TX 77030
PATEL, PI
LUPSKI, JR
论文数:
0
引用数:
0
h-index:
0
机构:
BAYLOR COLL MED,INST MOLEC GENET,1 BAYLOR PLAZA,HOUSTON,TX 77030
LUPSKI, JR
[J].
NEW ENGLAND JOURNAL OF MEDICINE,
1993,
329
(02)
: 96
-
101
[6]
DEJERINE-SOTTAS NEUROPATHY IS ASSOCIATED WITH A DE-NOVO PMP22 MUTATION
VALENTIJN, LJ
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV SYDNEY,CONCORD HOSP,DEPT MED,SYDNEY,NSW,AUSTRALIA
VALENTIJN, LJ
OUVRIER, RA
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV SYDNEY,CONCORD HOSP,DEPT MED,SYDNEY,NSW,AUSTRALIA
OUVRIER, RA
VANDENBOSCH, NHA
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV SYDNEY,CONCORD HOSP,DEPT MED,SYDNEY,NSW,AUSTRALIA
VANDENBOSCH, NHA
BOLHUIS, PA
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV SYDNEY,CONCORD HOSP,DEPT MED,SYDNEY,NSW,AUSTRALIA
BOLHUIS, PA
BAAS, F
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV SYDNEY,CONCORD HOSP,DEPT MED,SYDNEY,NSW,AUSTRALIA
BAAS, F
NICHOLSON, GA
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV SYDNEY,CONCORD HOSP,DEPT MED,SYDNEY,NSW,AUSTRALIA
NICHOLSON, GA
[J].
HUMAN MUTATION,
1995,
5
(01)
: 76
-
80
←
1
→
共 6 条
[1]
DING YG, 1994, J BIOL CHEM, V269, P10764
[2]
MUTATIONS IN DEMYELINATING PERIPHERAL NEUROPATHIES SUPPORT MOLECULAR-MODEL OF MYELIN PO-GLYCOPROTEIN EXTRACELLULAR DOMAIN
KIRSCHNER, DA
论文数:
0
引用数:
0
h-index:
0
机构:
HARVARD UNIV, CHILDRENS HOSP, SCH MED, STUDY SKELETAL DISORDERS LAB, BOSTON, MA 02115 USA
KIRSCHNER, DA
SAAVEDRA, RA
论文数:
0
引用数:
0
h-index:
0
机构:
HARVARD UNIV, CHILDRENS HOSP, SCH MED, STUDY SKELETAL DISORDERS LAB, BOSTON, MA 02115 USA
SAAVEDRA, RA
[J].
JOURNAL OF NEUROSCIENCE RESEARCH,
1994,
39
(01)
: 63
-
69
[3]
THE MAJOR PERIPHERAL MYELIN PROTEIN ZERO GENE - STRUCTURE AND LOCALIZATION IN THE CLUSTER OF FC-GAMMA RECEPTOR GENES ON HUMAN-CHROMOSOME 1Q21.3-Q23
PHAMDINH, D
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV PARIS 06,INST NEUROSCI,EQUIPE ATIPE,CNRS,UNITE 1488,F-75252 PARIS 05,FRANCE
PHAMDINH, D
FOURBIL, Y
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV PARIS 06,INST NEUROSCI,EQUIPE ATIPE,CNRS,UNITE 1488,F-75252 PARIS 05,FRANCE
FOURBIL, Y
BLANQUET, F
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV PARIS 06,INST NEUROSCI,EQUIPE ATIPE,CNRS,UNITE 1488,F-75252 PARIS 05,FRANCE
BLANQUET, F
MATTEI, MG
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV PARIS 06,INST NEUROSCI,EQUIPE ATIPE,CNRS,UNITE 1488,F-75252 PARIS 05,FRANCE
MATTEI, MG
ROECKEL, N
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV PARIS 06,INST NEUROSCI,EQUIPE ATIPE,CNRS,UNITE 1488,F-75252 PARIS 05,FRANCE
ROECKEL, N
LATOUR, P
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV PARIS 06,INST NEUROSCI,EQUIPE ATIPE,CNRS,UNITE 1488,F-75252 PARIS 05,FRANCE
LATOUR, P
CHAZOT, G
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV PARIS 06,INST NEUROSCI,EQUIPE ATIPE,CNRS,UNITE 1488,F-75252 PARIS 05,FRANCE
CHAZOT, G
VANDENBERGHE, A
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV PARIS 06,INST NEUROSCI,EQUIPE ATIPE,CNRS,UNITE 1488,F-75252 PARIS 05,FRANCE
VANDENBERGHE, A
DAUTIGNY, A
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV PARIS 06,INST NEUROSCI,EQUIPE ATIPE,CNRS,UNITE 1488,F-75252 PARIS 05,FRANCE
DAUTIGNY, A
[J].
HUMAN MOLECULAR GENETICS,
1993,
2
(12)
: 2051
-
2054
[4]
IDENTIFICATION OF A DE-NOVO INSERTIONAL MUTATION IN P-O IN A PATIENT WITH A DEJERINE-SOTTAS SYNDROME (DSS) PHENOTYPE
RAUTENSTRAUSS, B
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ANTWERP, BORN BUNGE FDN, DEPT BIOCHEM, NEUROGENET LAB, B-2610 ANTWERP, BELGIUM
RAUTENSTRAUSS, B
NELIS, E
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ANTWERP, BORN BUNGE FDN, DEPT BIOCHEM, NEUROGENET LAB, B-2610 ANTWERP, BELGIUM
NELIS, E
GREHL, H
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ANTWERP, BORN BUNGE FDN, DEPT BIOCHEM, NEUROGENET LAB, B-2610 ANTWERP, BELGIUM
GREHL, H
PFEIFFER, RA
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ANTWERP, BORN BUNGE FDN, DEPT BIOCHEM, NEUROGENET LAB, B-2610 ANTWERP, BELGIUM
PFEIFFER, RA
VAN BROECKHOVEN, C
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ANTWERP, BORN BUNGE FDN, DEPT BIOCHEM, NEUROGENET LAB, B-2610 ANTWERP, BELGIUM
VAN BROECKHOVEN, C
[J].
HUMAN MOLECULAR GENETICS,
1994,
3
(09)
: 1701
-
1702
[5]
CHARCOT-MARIE-TOOTH DISEASE TYPE-1A - ASSOCIATION WITH A SPONTANEOUS POINT MUTATION IN THE PMP22 GENE
ROA, BB
论文数:
0
引用数:
0
h-index:
0
机构:
BAYLOR COLL MED,INST MOLEC GENET,1 BAYLOR PLAZA,HOUSTON,TX 77030
ROA, BB
GARCIA, CA
论文数:
0
引用数:
0
h-index:
0
机构:
BAYLOR COLL MED,INST MOLEC GENET,1 BAYLOR PLAZA,HOUSTON,TX 77030
GARCIA, CA
SUTER, U
论文数:
0
引用数:
0
h-index:
0
机构:
BAYLOR COLL MED,INST MOLEC GENET,1 BAYLOR PLAZA,HOUSTON,TX 77030
SUTER, U
KULPA, DA
论文数:
0
引用数:
0
h-index:
0
机构:
BAYLOR COLL MED,INST MOLEC GENET,1 BAYLOR PLAZA,HOUSTON,TX 77030
KULPA, DA
WISE, CA
论文数:
0
引用数:
0
h-index:
0
机构:
BAYLOR COLL MED,INST MOLEC GENET,1 BAYLOR PLAZA,HOUSTON,TX 77030
WISE, CA
MUELLER, J
论文数:
0
引用数:
0
h-index:
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机构:
BAYLOR COLL MED,INST MOLEC GENET,1 BAYLOR PLAZA,HOUSTON,TX 77030
MUELLER, J
WELCHER, AA
论文数:
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引用数:
0
h-index:
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机构:
BAYLOR COLL MED,INST MOLEC GENET,1 BAYLOR PLAZA,HOUSTON,TX 77030
WELCHER, AA
SNIPES, GJ
论文数:
0
引用数:
0
h-index:
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机构:
BAYLOR COLL MED,INST MOLEC GENET,1 BAYLOR PLAZA,HOUSTON,TX 77030
SNIPES, GJ
SHOOTER, EM
论文数:
0
引用数:
0
h-index:
0
机构:
BAYLOR COLL MED,INST MOLEC GENET,1 BAYLOR PLAZA,HOUSTON,TX 77030
SHOOTER, EM
PATEL, PI
论文数:
0
引用数:
0
h-index:
0
机构:
BAYLOR COLL MED,INST MOLEC GENET,1 BAYLOR PLAZA,HOUSTON,TX 77030
PATEL, PI
LUPSKI, JR
论文数:
0
引用数:
0
h-index:
0
机构:
BAYLOR COLL MED,INST MOLEC GENET,1 BAYLOR PLAZA,HOUSTON,TX 77030
LUPSKI, JR
[J].
NEW ENGLAND JOURNAL OF MEDICINE,
1993,
329
(02)
: 96
-
101
[6]
DEJERINE-SOTTAS NEUROPATHY IS ASSOCIATED WITH A DE-NOVO PMP22 MUTATION
VALENTIJN, LJ
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV SYDNEY,CONCORD HOSP,DEPT MED,SYDNEY,NSW,AUSTRALIA
VALENTIJN, LJ
OUVRIER, RA
论文数:
0
引用数:
0
h-index:
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机构:
UNIV SYDNEY,CONCORD HOSP,DEPT MED,SYDNEY,NSW,AUSTRALIA
OUVRIER, RA
VANDENBOSCH, NHA
论文数:
0
引用数:
0
h-index:
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机构:
UNIV SYDNEY,CONCORD HOSP,DEPT MED,SYDNEY,NSW,AUSTRALIA
VANDENBOSCH, NHA
BOLHUIS, PA
论文数:
0
引用数:
0
h-index:
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机构:
UNIV SYDNEY,CONCORD HOSP,DEPT MED,SYDNEY,NSW,AUSTRALIA
BOLHUIS, PA
BAAS, F
论文数:
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引用数:
0
h-index:
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机构:
UNIV SYDNEY,CONCORD HOSP,DEPT MED,SYDNEY,NSW,AUSTRALIA
BAAS, F
NICHOLSON, GA
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV SYDNEY,CONCORD HOSP,DEPT MED,SYDNEY,NSW,AUSTRALIA
NICHOLSON, GA
[J].
HUMAN MUTATION,
1995,
5
(01)
: 76
-
80
←
1
→