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Stop codon in Exon 30 (E2069X) of beta-spectrin gene associated with hereditary elliptocytosis in spectrin Nagoya
被引:0
作者
:
Maillet, P
论文数:
0
引用数:
0
h-index:
0
机构:
KAWASAKI MED SCH, DEPT MED,DIV HEMATOL, KURASHIKI, OKAYAMA 70101, JAPAN
Maillet, P
Inoue, T
论文数:
0
引用数:
0
h-index:
0
机构:
KAWASAKI MED SCH, DEPT MED,DIV HEMATOL, KURASHIKI, OKAYAMA 70101, JAPAN
Inoue, T
Kanzaki, A
论文数:
0
引用数:
0
h-index:
0
机构:
KAWASAKI MED SCH, DEPT MED,DIV HEMATOL, KURASHIKI, OKAYAMA 70101, JAPAN
Kanzaki, A
Yawata, A
论文数:
0
引用数:
0
h-index:
0
机构:
KAWASAKI MED SCH, DEPT MED,DIV HEMATOL, KURASHIKI, OKAYAMA 70101, JAPAN
Yawata, A
Kato, K
论文数:
0
引用数:
0
h-index:
0
机构:
KAWASAKI MED SCH, DEPT MED,DIV HEMATOL, KURASHIKI, OKAYAMA 70101, JAPAN
Kato, K
Baklouti, F
论文数:
0
引用数:
0
h-index:
0
机构:
KAWASAKI MED SCH, DEPT MED,DIV HEMATOL, KURASHIKI, OKAYAMA 70101, JAPAN
Baklouti, F
Delaunay, J
论文数:
0
引用数:
0
h-index:
0
机构:
KAWASAKI MED SCH, DEPT MED,DIV HEMATOL, KURASHIKI, OKAYAMA 70101, JAPAN
Delaunay, J
Yawata, Y
论文数:
0
引用数:
0
h-index:
0
机构:
KAWASAKI MED SCH, DEPT MED,DIV HEMATOL, KURASHIKI, OKAYAMA 70101, JAPAN
Yawata, Y
机构
:
[1]
KAWASAKI MED SCH, DEPT MED,DIV HEMATOL, KURASHIKI, OKAYAMA 70101, JAPAN
[2]
NAGOYA FIRST HOSP, JAPANESE RED CROSS,CHILDRENS MED CTR, DIV HEMATOL ONCOL,NAKAMURA KU, NAGOYA, AICHI 453, JAPAN
来源
:
HUMAN MUTATION
|
1996年
/ 8卷
/ 04期
关键词
:
D O I
:
暂无
中图分类号
:
Q3 [遗传学];
学科分类号
:
071007 ;
090102 ;
摘要
:
引用
收藏
页码:366 / 368
页数:3
相关论文
共 14 条
[1]
SP-ALPHA-V/41 - A COMMON SPECTRIN POLYMORPHISM AT THE ALPHA-IV-ALPHA-V DOMAIN JUNCTION - RELEVANCE TO THE EXPRESSION LEVEL OF HEREDITARY ELLIPTOCYTOSIS DUE TO ALPHA-SPECTRIN VARIANTS LOCATED IN TRANS
ALLOISIO, N
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV LYON 1, CNRS, UMR 106, F-69622 VILLEURBANNE, FRANCE
ALLOISIO, N
MORLE, L
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV LYON 1, CNRS, UMR 106, F-69622 VILLEURBANNE, FRANCE
MORLE, L
MARECHAL, J
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV LYON 1, CNRS, UMR 106, F-69622 VILLEURBANNE, FRANCE
MARECHAL, J
ROUX, AF
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV LYON 1, CNRS, UMR 106, F-69622 VILLEURBANNE, FRANCE
ROUX, AF
DUCLUZEAU, MT
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV LYON 1, CNRS, UMR 106, F-69622 VILLEURBANNE, FRANCE
DUCLUZEAU, MT
GUETARNI, D
论文数:
0
引用数:
0
h-index:
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机构:
UNIV LYON 1, CNRS, UMR 106, F-69622 VILLEURBANNE, FRANCE
GUETARNI, D
POTHIER, B
论文数:
0
引用数:
0
h-index:
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机构:
UNIV LYON 1, CNRS, UMR 106, F-69622 VILLEURBANNE, FRANCE
POTHIER, B
BAKLOUTI, F
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV LYON 1, CNRS, UMR 106, F-69622 VILLEURBANNE, FRANCE
BAKLOUTI, F
GHANEM, A
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV LYON 1, CNRS, UMR 106, F-69622 VILLEURBANNE, FRANCE
GHANEM, A
KASTALLY, R
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV LYON 1, CNRS, UMR 106, F-69622 VILLEURBANNE, FRANCE
KASTALLY, R
DELAUNAY, J
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV LYON 1, CNRS, UMR 106, F-69622 VILLEURBANNE, FRANCE
DELAUNAY, J
[J].
JOURNAL OF CLINICAL INVESTIGATION,
1991,
87
(06)
: 2169
-
2177
[2]
BUDOWLE B, 1991, AM J HUM GENET, V48, P137
[3]
SPECTRIN ROUEN (BETA-220-218), A NOVEL SHORTENED BETA-CHAIN VARIANT IN A KINDRED WITH HEREDITARY ELLIPTOCYTOSIS - CHARACTERIZATION OF THE MOLECULAR DEFECT AS EXON SKIPPING DUE TO A SPLICE SITE MUTATION
GARBARZ, M
论文数:
0
引用数:
0
h-index:
0
机构:
YALE UNIV, SCH MED, DEPT INTERNAL MED, POB 3333, NEW HAVEN, CT 06510 USA
GARBARZ, M
TSE, WT
论文数:
0
引用数:
0
h-index:
0
机构:
YALE UNIV, SCH MED, DEPT INTERNAL MED, POB 3333, NEW HAVEN, CT 06510 USA
TSE, WT
GALLAGHER, PG
论文数:
0
引用数:
0
h-index:
0
机构:
YALE UNIV, SCH MED, DEPT INTERNAL MED, POB 3333, NEW HAVEN, CT 06510 USA
GALLAGHER, PG
PICAT, C
论文数:
0
引用数:
0
h-index:
0
机构:
YALE UNIV, SCH MED, DEPT INTERNAL MED, POB 3333, NEW HAVEN, CT 06510 USA
PICAT, C
LECOMTE, MC
论文数:
0
引用数:
0
h-index:
0
机构:
YALE UNIV, SCH MED, DEPT INTERNAL MED, POB 3333, NEW HAVEN, CT 06510 USA
LECOMTE, MC
GALIBERT, F
论文数:
0
引用数:
0
h-index:
0
机构:
YALE UNIV, SCH MED, DEPT INTERNAL MED, POB 3333, NEW HAVEN, CT 06510 USA
GALIBERT, F
DHERMY, D
论文数:
0
引用数:
0
h-index:
0
机构:
YALE UNIV, SCH MED, DEPT INTERNAL MED, POB 3333, NEW HAVEN, CT 06510 USA
DHERMY, D
FORGET, BG
论文数:
0
引用数:
0
h-index:
0
机构:
YALE UNIV, SCH MED, DEPT INTERNAL MED, POB 3333, NEW HAVEN, CT 06510 USA
FORGET, BG
[J].
JOURNAL OF CLINICAL INVESTIGATION,
1991,
88
(01)
: 76
-
81
[4]
AMPLIFICATION OF A HIGHLY POLYMORPHIC VNTR SEGMENT BY THE POLYMERASE CHAIN-REACTION
HORN, GT
论文数:
0
引用数:
0
h-index:
0
HORN, GT
RICHARDS, B
论文数:
0
引用数:
0
h-index:
0
RICHARDS, B
KLINGER, KW
论文数:
0
引用数:
0
h-index:
0
KLINGER, KW
[J].
NUCLEIC ACIDS RESEARCH,
1989,
17
(05)
: 2140
-
2140
[5]
KANZAKI A, 1992, BLOOD, V80, P2115
[6]
ELLIPTOCYTOSIS-ASSOCIATED SPECTRIN ROUEN (BETA-220/218) HAS A TRUNCATED BUT STILL PHOSPHORYLATABLE BETA-CHAIN
LECOMTE, MC
论文数:
0
引用数:
0
h-index:
0
机构:
HOP CHARLES NICOLLE,F-76038 ROUEN,FRANCE
LECOMTE, MC
GAUTERO, H
论文数:
0
引用数:
0
h-index:
0
机构:
HOP CHARLES NICOLLE,F-76038 ROUEN,FRANCE
GAUTERO, H
BOURNIER, O
论文数:
0
引用数:
0
h-index:
0
机构:
HOP CHARLES NICOLLE,F-76038 ROUEN,FRANCE
BOURNIER, O
GALAND, C
论文数:
0
引用数:
0
h-index:
0
机构:
HOP CHARLES NICOLLE,F-76038 ROUEN,FRANCE
GALAND, C
LAHARY, A
论文数:
0
引用数:
0
h-index:
0
机构:
HOP CHARLES NICOLLE,F-76038 ROUEN,FRANCE
LAHARY, A
VANNIER, JP
论文数:
0
引用数:
0
h-index:
0
机构:
HOP CHARLES NICOLLE,F-76038 ROUEN,FRANCE
VANNIER, JP
GARBARZ, M
论文数:
0
引用数:
0
h-index:
0
机构:
HOP CHARLES NICOLLE,F-76038 ROUEN,FRANCE
GARBARZ, M
DELAUNAY, J
论文数:
0
引用数:
0
h-index:
0
机构:
HOP CHARLES NICOLLE,F-76038 ROUEN,FRANCE
DELAUNAY, J
TCHERNIA, G
论文数:
0
引用数:
0
h-index:
0
机构:
HOP CHARLES NICOLLE,F-76038 ROUEN,FRANCE
TCHERNIA, G
BOIVIN, P
论文数:
0
引用数:
0
h-index:
0
机构:
HOP CHARLES NICOLLE,F-76038 ROUEN,FRANCE
BOIVIN, P
DHERMY, D
论文数:
0
引用数:
0
h-index:
0
机构:
HOP CHARLES NICOLLE,F-76038 ROUEN,FRANCE
DHERMY, D
[J].
BRITISH JOURNAL OF HAEMATOLOGY,
1992,
80
(02)
: 242
-
250
[7]
Lux SE., 1995, Blood, P1701
[8]
MARECHAL J, 1994, EUR J HAEMATOL, V52, P92
[9]
2 ELLIPTOCYTOGENIC ALPHA-I/74 VARIANTS OF THE SPECTRIN ALPHA-I DOMAIN SPECTRIN CULOZ (GGT-]GTT ALPHA-I-40 GLY-]VAL) AND SPECTRIN LYON (CTT-]TTT ALPHA-I-43 LEU-]PHE)
MORLE, L
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV LYON 1,CNRS,UMR 106,F-69622 VILLEURBANNE,FRANCE
MORLE, L
ROUX, AF
论文数:
0
引用数:
0
h-index:
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机构:
UNIV LYON 1,CNRS,UMR 106,F-69622 VILLEURBANNE,FRANCE
ROUX, AF
ALLOISIO, N
论文数:
0
引用数:
0
h-index:
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机构:
UNIV LYON 1,CNRS,UMR 106,F-69622 VILLEURBANNE,FRANCE
ALLOISIO, N
POTHIER, B
论文数:
0
引用数:
0
h-index:
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机构:
UNIV LYON 1,CNRS,UMR 106,F-69622 VILLEURBANNE,FRANCE
POTHIER, B
STARCK, J
论文数:
0
引用数:
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机构:
UNIV LYON 1,CNRS,UMR 106,F-69622 VILLEURBANNE,FRANCE
STARCK, J
DENOROY, L
论文数:
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引用数:
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h-index:
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机构:
UNIV LYON 1,CNRS,UMR 106,F-69622 VILLEURBANNE,FRANCE
DENOROY, L
MORLE, F
论文数:
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引用数:
0
h-index:
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机构:
UNIV LYON 1,CNRS,UMR 106,F-69622 VILLEURBANNE,FRANCE
MORLE, F
RUDIGOZ, RC
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引用数:
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机构:
UNIV LYON 1,CNRS,UMR 106,F-69622 VILLEURBANNE,FRANCE
RUDIGOZ, RC
FORGET, BG
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引用数:
0
h-index:
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机构:
UNIV LYON 1,CNRS,UMR 106,F-69622 VILLEURBANNE,FRANCE
FORGET, BG
DELAUNAY, J
论文数:
0
引用数:
0
h-index:
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机构:
UNIV LYON 1,CNRS,UMR 106,F-69622 VILLEURBANNE,FRANCE
DELAUNAY, J
GODET, J
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV LYON 1,CNRS,UMR 106,F-69622 VILLEURBANNE,FRANCE
GODET, J
[J].
JOURNAL OF CLINICAL INVESTIGATION,
1990,
86
(02)
: 548
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554
[10]
PARQUET N, 1994, BLOOD, V84, P303
←
1
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共 14 条
[1]
SP-ALPHA-V/41 - A COMMON SPECTRIN POLYMORPHISM AT THE ALPHA-IV-ALPHA-V DOMAIN JUNCTION - RELEVANCE TO THE EXPRESSION LEVEL OF HEREDITARY ELLIPTOCYTOSIS DUE TO ALPHA-SPECTRIN VARIANTS LOCATED IN TRANS
ALLOISIO, N
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV LYON 1, CNRS, UMR 106, F-69622 VILLEURBANNE, FRANCE
ALLOISIO, N
MORLE, L
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV LYON 1, CNRS, UMR 106, F-69622 VILLEURBANNE, FRANCE
MORLE, L
MARECHAL, J
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV LYON 1, CNRS, UMR 106, F-69622 VILLEURBANNE, FRANCE
MARECHAL, J
ROUX, AF
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV LYON 1, CNRS, UMR 106, F-69622 VILLEURBANNE, FRANCE
ROUX, AF
DUCLUZEAU, MT
论文数:
0
引用数:
0
h-index:
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机构:
UNIV LYON 1, CNRS, UMR 106, F-69622 VILLEURBANNE, FRANCE
DUCLUZEAU, MT
GUETARNI, D
论文数:
0
引用数:
0
h-index:
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机构:
UNIV LYON 1, CNRS, UMR 106, F-69622 VILLEURBANNE, FRANCE
GUETARNI, D
POTHIER, B
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引用数:
0
h-index:
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机构:
UNIV LYON 1, CNRS, UMR 106, F-69622 VILLEURBANNE, FRANCE
POTHIER, B
BAKLOUTI, F
论文数:
0
引用数:
0
h-index:
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机构:
UNIV LYON 1, CNRS, UMR 106, F-69622 VILLEURBANNE, FRANCE
BAKLOUTI, F
GHANEM, A
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV LYON 1, CNRS, UMR 106, F-69622 VILLEURBANNE, FRANCE
GHANEM, A
KASTALLY, R
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV LYON 1, CNRS, UMR 106, F-69622 VILLEURBANNE, FRANCE
KASTALLY, R
DELAUNAY, J
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV LYON 1, CNRS, UMR 106, F-69622 VILLEURBANNE, FRANCE
DELAUNAY, J
[J].
JOURNAL OF CLINICAL INVESTIGATION,
1991,
87
(06)
: 2169
-
2177
[2]
BUDOWLE B, 1991, AM J HUM GENET, V48, P137
[3]
SPECTRIN ROUEN (BETA-220-218), A NOVEL SHORTENED BETA-CHAIN VARIANT IN A KINDRED WITH HEREDITARY ELLIPTOCYTOSIS - CHARACTERIZATION OF THE MOLECULAR DEFECT AS EXON SKIPPING DUE TO A SPLICE SITE MUTATION
GARBARZ, M
论文数:
0
引用数:
0
h-index:
0
机构:
YALE UNIV, SCH MED, DEPT INTERNAL MED, POB 3333, NEW HAVEN, CT 06510 USA
GARBARZ, M
TSE, WT
论文数:
0
引用数:
0
h-index:
0
机构:
YALE UNIV, SCH MED, DEPT INTERNAL MED, POB 3333, NEW HAVEN, CT 06510 USA
TSE, WT
GALLAGHER, PG
论文数:
0
引用数:
0
h-index:
0
机构:
YALE UNIV, SCH MED, DEPT INTERNAL MED, POB 3333, NEW HAVEN, CT 06510 USA
GALLAGHER, PG
PICAT, C
论文数:
0
引用数:
0
h-index:
0
机构:
YALE UNIV, SCH MED, DEPT INTERNAL MED, POB 3333, NEW HAVEN, CT 06510 USA
PICAT, C
LECOMTE, MC
论文数:
0
引用数:
0
h-index:
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机构:
YALE UNIV, SCH MED, DEPT INTERNAL MED, POB 3333, NEW HAVEN, CT 06510 USA
LECOMTE, MC
GALIBERT, F
论文数:
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引用数:
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h-index:
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机构:
YALE UNIV, SCH MED, DEPT INTERNAL MED, POB 3333, NEW HAVEN, CT 06510 USA
GALIBERT, F
DHERMY, D
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引用数:
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h-index:
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机构:
YALE UNIV, SCH MED, DEPT INTERNAL MED, POB 3333, NEW HAVEN, CT 06510 USA
DHERMY, D
FORGET, BG
论文数:
0
引用数:
0
h-index:
0
机构:
YALE UNIV, SCH MED, DEPT INTERNAL MED, POB 3333, NEW HAVEN, CT 06510 USA
FORGET, BG
[J].
JOURNAL OF CLINICAL INVESTIGATION,
1991,
88
(01)
: 76
-
81
[4]
AMPLIFICATION OF A HIGHLY POLYMORPHIC VNTR SEGMENT BY THE POLYMERASE CHAIN-REACTION
HORN, GT
论文数:
0
引用数:
0
h-index:
0
HORN, GT
RICHARDS, B
论文数:
0
引用数:
0
h-index:
0
RICHARDS, B
KLINGER, KW
论文数:
0
引用数:
0
h-index:
0
KLINGER, KW
[J].
NUCLEIC ACIDS RESEARCH,
1989,
17
(05)
: 2140
-
2140
[5]
KANZAKI A, 1992, BLOOD, V80, P2115
[6]
ELLIPTOCYTOSIS-ASSOCIATED SPECTRIN ROUEN (BETA-220/218) HAS A TRUNCATED BUT STILL PHOSPHORYLATABLE BETA-CHAIN
LECOMTE, MC
论文数:
0
引用数:
0
h-index:
0
机构:
HOP CHARLES NICOLLE,F-76038 ROUEN,FRANCE
LECOMTE, MC
GAUTERO, H
论文数:
0
引用数:
0
h-index:
0
机构:
HOP CHARLES NICOLLE,F-76038 ROUEN,FRANCE
GAUTERO, H
BOURNIER, O
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引用数:
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h-index:
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机构:
HOP CHARLES NICOLLE,F-76038 ROUEN,FRANCE
BOURNIER, O
GALAND, C
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引用数:
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机构:
HOP CHARLES NICOLLE,F-76038 ROUEN,FRANCE
GALAND, C
LAHARY, A
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HOP CHARLES NICOLLE,F-76038 ROUEN,FRANCE
LAHARY, A
VANNIER, JP
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HOP CHARLES NICOLLE,F-76038 ROUEN,FRANCE
VANNIER, JP
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HOP CHARLES NICOLLE,F-76038 ROUEN,FRANCE
GARBARZ, M
DELAUNAY, J
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HOP CHARLES NICOLLE,F-76038 ROUEN,FRANCE
DELAUNAY, J
TCHERNIA, G
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TCHERNIA, G
BOIVIN, P
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HOP CHARLES NICOLLE,F-76038 ROUEN,FRANCE
BOIVIN, P
DHERMY, D
论文数:
0
引用数:
0
h-index:
0
机构:
HOP CHARLES NICOLLE,F-76038 ROUEN,FRANCE
DHERMY, D
[J].
BRITISH JOURNAL OF HAEMATOLOGY,
1992,
80
(02)
: 242
-
250
[7]
Lux SE., 1995, Blood, P1701
[8]
MARECHAL J, 1994, EUR J HAEMATOL, V52, P92
[9]
2 ELLIPTOCYTOGENIC ALPHA-I/74 VARIANTS OF THE SPECTRIN ALPHA-I DOMAIN SPECTRIN CULOZ (GGT-]GTT ALPHA-I-40 GLY-]VAL) AND SPECTRIN LYON (CTT-]TTT ALPHA-I-43 LEU-]PHE)
MORLE, L
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV LYON 1,CNRS,UMR 106,F-69622 VILLEURBANNE,FRANCE
MORLE, L
ROUX, AF
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0
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0
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UNIV LYON 1,CNRS,UMR 106,F-69622 VILLEURBANNE,FRANCE
ROUX, AF
ALLOISIO, N
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0
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UNIV LYON 1,CNRS,UMR 106,F-69622 VILLEURBANNE,FRANCE
ALLOISIO, N
POTHIER, B
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UNIV LYON 1,CNRS,UMR 106,F-69622 VILLEURBANNE,FRANCE
POTHIER, B
STARCK, J
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UNIV LYON 1,CNRS,UMR 106,F-69622 VILLEURBANNE,FRANCE
STARCK, J
DENOROY, L
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UNIV LYON 1,CNRS,UMR 106,F-69622 VILLEURBANNE,FRANCE
DENOROY, L
MORLE, F
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UNIV LYON 1,CNRS,UMR 106,F-69622 VILLEURBANNE,FRANCE
MORLE, F
RUDIGOZ, RC
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UNIV LYON 1,CNRS,UMR 106,F-69622 VILLEURBANNE,FRANCE
RUDIGOZ, RC
FORGET, BG
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UNIV LYON 1,CNRS,UMR 106,F-69622 VILLEURBANNE,FRANCE
FORGET, BG
DELAUNAY, J
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DELAUNAY, J
GODET, J
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UNIV LYON 1,CNRS,UMR 106,F-69622 VILLEURBANNE,FRANCE
GODET, J
[J].
JOURNAL OF CLINICAL INVESTIGATION,
1990,
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(02)
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554
[10]
PARQUET N, 1994, BLOOD, V84, P303
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