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Rare disease genes - Lessons and challenges
被引:14
作者
:
Peltonen, L
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HELSINKI,INST BIOMED,FIN-00300 HELSINKI,FINLAND
UNIV HELSINKI,INST BIOMED,FIN-00300 HELSINKI,FINLAND
Peltonen, L
[
1
]
Uusitalo, A
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HELSINKI,INST BIOMED,FIN-00300 HELSINKI,FINLAND
UNIV HELSINKI,INST BIOMED,FIN-00300 HELSINKI,FINLAND
Uusitalo, A
[
1
]
机构
:
[1]
UNIV HELSINKI,INST BIOMED,FIN-00300 HELSINKI,FINLAND
来源
:
GENOME RESEARCH
|
1997年
/ 7卷
/ 08期
关键词
:
D O I
:
10.1101/gr.7.8.765
中图分类号
:
Q5 [生物化学];
Q7 [分子生物学];
学科分类号
:
071010 ;
081704 ;
摘要
:
引用
收藏
页码:765 / 767
页数:3
相关论文
共 18 条
[1]
A RECEPTOR-MEDIATED PATHWAY FOR CHOLESTEROL HOMEOSTASIS
BROWN, MS
论文数:
0
引用数:
0
h-index:
0
BROWN, MS
GOLDSTEIN, JL
论文数:
0
引用数:
0
h-index:
0
GOLDSTEIN, JL
[J].
SCIENCE,
1986,
232
(4746)
: 34
-
47
[2]
THE DIASTROPHIC DYSPLASIA GENE ENCODES A NOVEL SULFATE TRANSPORTER - POSITIONAL CLONING BY FINE-STRUCTURE LINKAGE DISEQUILIBRIUM MAPPING
HASTBACKA, J
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HELSINKI, DEPT MED GENET, SF-00014 HELSINKI, FINLAND
HASTBACKA, J
DELACHAPELLE, A
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HELSINKI, DEPT MED GENET, SF-00014 HELSINKI, FINLAND
DELACHAPELLE, A
MAHTANI, MM
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HELSINKI, DEPT MED GENET, SF-00014 HELSINKI, FINLAND
MAHTANI, MM
CLINES, G
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HELSINKI, DEPT MED GENET, SF-00014 HELSINKI, FINLAND
CLINES, G
REEVEDALY, MP
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HELSINKI, DEPT MED GENET, SF-00014 HELSINKI, FINLAND
REEVEDALY, MP
DALY, M
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HELSINKI, DEPT MED GENET, SF-00014 HELSINKI, FINLAND
DALY, M
HAMILTON, BA
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HELSINKI, DEPT MED GENET, SF-00014 HELSINKI, FINLAND
HAMILTON, BA
KUSUMI, K
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HELSINKI, DEPT MED GENET, SF-00014 HELSINKI, FINLAND
KUSUMI, K
TRIVEDI, B
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HELSINKI, DEPT MED GENET, SF-00014 HELSINKI, FINLAND
TRIVEDI, B
WEAVER, A
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HELSINKI, DEPT MED GENET, SF-00014 HELSINKI, FINLAND
WEAVER, A
COLOMA, A
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HELSINKI, DEPT MED GENET, SF-00014 HELSINKI, FINLAND
COLOMA, A
LOVETT, M
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HELSINKI, DEPT MED GENET, SF-00014 HELSINKI, FINLAND
LOVETT, M
BUCKLER, A
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HELSINKI, DEPT MED GENET, SF-00014 HELSINKI, FINLAND
BUCKLER, A
KAITILA, I
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HELSINKI, DEPT MED GENET, SF-00014 HELSINKI, FINLAND
KAITILA, I
LANDER, ES
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HELSINKI, DEPT MED GENET, SF-00014 HELSINKI, FINLAND
LANDER, ES
[J].
CELL,
1994,
78
(06)
: 1073
-
1087
[3]
LYSOSOMAL ASPARTYLGLUCOSAMINIDASE IS PROCESSED TO THE ACTIVE SUBUNIT COMPLEX IN THE ENDOPLASMIC-RETICULUM
论文数:
引用数:
h-index:
机构:
IKONEN, E
论文数:
引用数:
h-index:
机构:
JULKUNEN, I
TOLLERSRUD, OK
论文数:
0
引用数:
0
h-index:
0
机构:
NATL PUBL HLTH INST,DEPT HUMAN MOLEC GENET,SF-00300 HELSINKI,FINLAND
TOLLERSRUD, OK
KALKKINEN, N
论文数:
0
引用数:
0
h-index:
0
机构:
NATL PUBL HLTH INST,DEPT HUMAN MOLEC GENET,SF-00300 HELSINKI,FINLAND
KALKKINEN, N
论文数:
引用数:
h-index:
机构:
PELTONEN, L
[J].
EMBO JOURNAL,
1993,
12
(01)
: 295
-
302
[4]
ASPARTYLGLUCOSAMINURIA - CDNA-ENCODING HUMAN ASPARTYLGLUCOSAMINIDASE AND THE MISSENSE MUTATION CAUSING THE DISEASE
IKONEN, E
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HELSINKI,DEPT MED CHEM,SF-00170 HELSINKI 17,FINLAND
IKONEN, E
BAUMANN, M
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HELSINKI,DEPT MED CHEM,SF-00170 HELSINKI 17,FINLAND
BAUMANN, M
GRON, K
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HELSINKI,DEPT MED CHEM,SF-00170 HELSINKI 17,FINLAND
GRON, K
SYVANEN, AC
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HELSINKI,DEPT MED CHEM,SF-00170 HELSINKI 17,FINLAND
SYVANEN, AC
ENOMAA, N
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HELSINKI,DEPT MED CHEM,SF-00170 HELSINKI 17,FINLAND
ENOMAA, N
HALILA, R
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HELSINKI,DEPT MED CHEM,SF-00170 HELSINKI 17,FINLAND
HALILA, R
AULA, P
论文数:
0
引用数:
0
h-index:
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机构:
UNIV HELSINKI,DEPT MED CHEM,SF-00170 HELSINKI 17,FINLAND
AULA, P
PELTONEN, L
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HELSINKI,DEPT MED CHEM,SF-00170 HELSINKI 17,FINLAND
PELTONEN, L
[J].
EMBO JOURNAL,
1991,
10
(01)
: 51
-
58
[5]
INVITRO MUTAGENESIS HELPS TO UNRAVEL THE BIOLOGICAL CONSEQUENCES OF ASPARTYLGLUCOSAMINURIA MUTATION
IKONEN, E
论文数:
0
引用数:
0
h-index:
0
机构:
ORION CORP,MOLEC GENET,SF-00380 HELSINKI,FINLAND
ORION CORP,MOLEC GENET,SF-00380 HELSINKI,FINLAND
IKONEN, E
ENOMAA, N
论文数:
0
引用数:
0
h-index:
0
机构:
ORION CORP,MOLEC GENET,SF-00380 HELSINKI,FINLAND
ORION CORP,MOLEC GENET,SF-00380 HELSINKI,FINLAND
ENOMAA, N
ULMANEN, I
论文数:
0
引用数:
0
h-index:
0
机构:
ORION CORP,MOLEC GENET,SF-00380 HELSINKI,FINLAND
ORION CORP,MOLEC GENET,SF-00380 HELSINKI,FINLAND
ULMANEN, I
PELTONEN, L
论文数:
0
引用数:
0
h-index:
0
机构:
ORION CORP,MOLEC GENET,SF-00380 HELSINKI,FINLAND
ORION CORP,MOLEC GENET,SF-00380 HELSINKI,FINLAND
PELTONEN, L
[J].
GENOMICS,
1991,
11
(01)
: 206
-
211
[6]
GENETIC DISSECTION OF COMPLEX TRAITS
LANDER, ES
论文数:
0
引用数:
0
h-index:
0
机构:
MIT, DEPT BIOL, CAMBRIDGE, MA 02139 USA
LANDER, ES
SCHORK, NJ
论文数:
0
引用数:
0
h-index:
0
机构:
MIT, DEPT BIOL, CAMBRIDGE, MA 02139 USA
SCHORK, NJ
[J].
SCIENCE,
1994,
265
(5181)
: 2037
-
2048
[7]
Luria SE, 1943, GENETICS, V28, P491
[8]
McKusick V.A., 1994, MENDELIAN INHERITANC
[9]
ASPARTYLGLYCOSAMINURIA - PROTEIN CHEMISTRY AND MOLECULAR-BIOLOGY OF THE MOST COMMON LYSOSOMAL STORAGE DISORDER OF GLYCOPROTEIN DEGRADATION
MONONEN, I
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV KUOPIO,DEPT CLIN CHEM,SF-70210 KUOPIO,FINLAND
MONONEN, I
FISHER, KJ
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV KUOPIO,DEPT CLIN CHEM,SF-70210 KUOPIO,FINLAND
FISHER, KJ
KAARTINEN, V
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV KUOPIO,DEPT CLIN CHEM,SF-70210 KUOPIO,FINLAND
KAARTINEN, V
ARONSON, NN
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV KUOPIO,DEPT CLIN CHEM,SF-70210 KUOPIO,FINLAND
ARONSON, NN
[J].
FASEB JOURNAL,
1993,
7
(13)
: 1247
-
1256
[10]
NIKALI K, 1995, AM J HUM GENET, V56, P1088
←
1
2
→
共 18 条
[1]
A RECEPTOR-MEDIATED PATHWAY FOR CHOLESTEROL HOMEOSTASIS
BROWN, MS
论文数:
0
引用数:
0
h-index:
0
BROWN, MS
GOLDSTEIN, JL
论文数:
0
引用数:
0
h-index:
0
GOLDSTEIN, JL
[J].
SCIENCE,
1986,
232
(4746)
: 34
-
47
[2]
THE DIASTROPHIC DYSPLASIA GENE ENCODES A NOVEL SULFATE TRANSPORTER - POSITIONAL CLONING BY FINE-STRUCTURE LINKAGE DISEQUILIBRIUM MAPPING
HASTBACKA, J
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HELSINKI, DEPT MED GENET, SF-00014 HELSINKI, FINLAND
HASTBACKA, J
DELACHAPELLE, A
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HELSINKI, DEPT MED GENET, SF-00014 HELSINKI, FINLAND
DELACHAPELLE, A
MAHTANI, MM
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HELSINKI, DEPT MED GENET, SF-00014 HELSINKI, FINLAND
MAHTANI, MM
CLINES, G
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HELSINKI, DEPT MED GENET, SF-00014 HELSINKI, FINLAND
CLINES, G
REEVEDALY, MP
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HELSINKI, DEPT MED GENET, SF-00014 HELSINKI, FINLAND
REEVEDALY, MP
DALY, M
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HELSINKI, DEPT MED GENET, SF-00014 HELSINKI, FINLAND
DALY, M
HAMILTON, BA
论文数:
0
引用数:
0
h-index:
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机构:
UNIV HELSINKI, DEPT MED GENET, SF-00014 HELSINKI, FINLAND
HAMILTON, BA
KUSUMI, K
论文数:
0
引用数:
0
h-index:
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机构:
UNIV HELSINKI, DEPT MED GENET, SF-00014 HELSINKI, FINLAND
KUSUMI, K
TRIVEDI, B
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0
引用数:
0
h-index:
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机构:
UNIV HELSINKI, DEPT MED GENET, SF-00014 HELSINKI, FINLAND
TRIVEDI, B
WEAVER, A
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引用数:
0
h-index:
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机构:
UNIV HELSINKI, DEPT MED GENET, SF-00014 HELSINKI, FINLAND
WEAVER, A
COLOMA, A
论文数:
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引用数:
0
h-index:
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机构:
UNIV HELSINKI, DEPT MED GENET, SF-00014 HELSINKI, FINLAND
COLOMA, A
LOVETT, M
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引用数:
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h-index:
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机构:
UNIV HELSINKI, DEPT MED GENET, SF-00014 HELSINKI, FINLAND
LOVETT, M
BUCKLER, A
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引用数:
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h-index:
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机构:
UNIV HELSINKI, DEPT MED GENET, SF-00014 HELSINKI, FINLAND
BUCKLER, A
KAITILA, I
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引用数:
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UNIV HELSINKI, DEPT MED GENET, SF-00014 HELSINKI, FINLAND
KAITILA, I
LANDER, ES
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HELSINKI, DEPT MED GENET, SF-00014 HELSINKI, FINLAND
LANDER, ES
[J].
CELL,
1994,
78
(06)
: 1073
-
1087
[3]
LYSOSOMAL ASPARTYLGLUCOSAMINIDASE IS PROCESSED TO THE ACTIVE SUBUNIT COMPLEX IN THE ENDOPLASMIC-RETICULUM
论文数:
引用数:
h-index:
机构:
IKONEN, E
论文数:
引用数:
h-index:
机构:
JULKUNEN, I
TOLLERSRUD, OK
论文数:
0
引用数:
0
h-index:
0
机构:
NATL PUBL HLTH INST,DEPT HUMAN MOLEC GENET,SF-00300 HELSINKI,FINLAND
TOLLERSRUD, OK
KALKKINEN, N
论文数:
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引用数:
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h-index:
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机构:
NATL PUBL HLTH INST,DEPT HUMAN MOLEC GENET,SF-00300 HELSINKI,FINLAND
KALKKINEN, N
论文数:
引用数:
h-index:
机构:
PELTONEN, L
[J].
EMBO JOURNAL,
1993,
12
(01)
: 295
-
302
[4]
ASPARTYLGLUCOSAMINURIA - CDNA-ENCODING HUMAN ASPARTYLGLUCOSAMINIDASE AND THE MISSENSE MUTATION CAUSING THE DISEASE
IKONEN, E
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HELSINKI,DEPT MED CHEM,SF-00170 HELSINKI 17,FINLAND
IKONEN, E
BAUMANN, M
论文数:
0
引用数:
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h-index:
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UNIV HELSINKI,DEPT MED CHEM,SF-00170 HELSINKI 17,FINLAND
BAUMANN, M
GRON, K
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引用数:
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机构:
UNIV HELSINKI,DEPT MED CHEM,SF-00170 HELSINKI 17,FINLAND
GRON, K
SYVANEN, AC
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引用数:
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UNIV HELSINKI,DEPT MED CHEM,SF-00170 HELSINKI 17,FINLAND
SYVANEN, AC
ENOMAA, N
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引用数:
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UNIV HELSINKI,DEPT MED CHEM,SF-00170 HELSINKI 17,FINLAND
ENOMAA, N
HALILA, R
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引用数:
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UNIV HELSINKI,DEPT MED CHEM,SF-00170 HELSINKI 17,FINLAND
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AULA, P
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UNIV HELSINKI,DEPT MED CHEM,SF-00170 HELSINKI 17,FINLAND
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引用数:
0
h-index:
0
机构:
UNIV HELSINKI,DEPT MED CHEM,SF-00170 HELSINKI 17,FINLAND
PELTONEN, L
[J].
EMBO JOURNAL,
1991,
10
(01)
: 51
-
58
[5]
INVITRO MUTAGENESIS HELPS TO UNRAVEL THE BIOLOGICAL CONSEQUENCES OF ASPARTYLGLUCOSAMINURIA MUTATION
IKONEN, E
论文数:
0
引用数:
0
h-index:
0
机构:
ORION CORP,MOLEC GENET,SF-00380 HELSINKI,FINLAND
ORION CORP,MOLEC GENET,SF-00380 HELSINKI,FINLAND
IKONEN, E
ENOMAA, N
论文数:
0
引用数:
0
h-index:
0
机构:
ORION CORP,MOLEC GENET,SF-00380 HELSINKI,FINLAND
ORION CORP,MOLEC GENET,SF-00380 HELSINKI,FINLAND
ENOMAA, N
ULMANEN, I
论文数:
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引用数:
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h-index:
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机构:
ORION CORP,MOLEC GENET,SF-00380 HELSINKI,FINLAND
ORION CORP,MOLEC GENET,SF-00380 HELSINKI,FINLAND
ULMANEN, I
PELTONEN, L
论文数:
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引用数:
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h-index:
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机构:
ORION CORP,MOLEC GENET,SF-00380 HELSINKI,FINLAND
ORION CORP,MOLEC GENET,SF-00380 HELSINKI,FINLAND
PELTONEN, L
[J].
GENOMICS,
1991,
11
(01)
: 206
-
211
[6]
GENETIC DISSECTION OF COMPLEX TRAITS
LANDER, ES
论文数:
0
引用数:
0
h-index:
0
机构:
MIT, DEPT BIOL, CAMBRIDGE, MA 02139 USA
LANDER, ES
SCHORK, NJ
论文数:
0
引用数:
0
h-index:
0
机构:
MIT, DEPT BIOL, CAMBRIDGE, MA 02139 USA
SCHORK, NJ
[J].
SCIENCE,
1994,
265
(5181)
: 2037
-
2048
[7]
Luria SE, 1943, GENETICS, V28, P491
[8]
McKusick V.A., 1994, MENDELIAN INHERITANC
[9]
ASPARTYLGLYCOSAMINURIA - PROTEIN CHEMISTRY AND MOLECULAR-BIOLOGY OF THE MOST COMMON LYSOSOMAL STORAGE DISORDER OF GLYCOPROTEIN DEGRADATION
MONONEN, I
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV KUOPIO,DEPT CLIN CHEM,SF-70210 KUOPIO,FINLAND
MONONEN, I
FISHER, KJ
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV KUOPIO,DEPT CLIN CHEM,SF-70210 KUOPIO,FINLAND
FISHER, KJ
KAARTINEN, V
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV KUOPIO,DEPT CLIN CHEM,SF-70210 KUOPIO,FINLAND
KAARTINEN, V
ARONSON, NN
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV KUOPIO,DEPT CLIN CHEM,SF-70210 KUOPIO,FINLAND
ARONSON, NN
[J].
FASEB JOURNAL,
1993,
7
(13)
: 1247
-
1256
[10]
NIKALI K, 1995, AM J HUM GENET, V56, P1088
←
1
2
→