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Stop codon in Exon 30 (E2069X) of beta-spectrin gene associated with hereditary elliptocytosis in spectrin Nagoya
被引:0
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作者
:
Maillet, P
论文数:
0
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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
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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
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0
h-index:
0
机构:
KAWASAKI MED SCH, DEPT MED,DIV HEMATOL, KURASHIKI, OKAYAMA 70101, JAPAN
Kanzaki, A
Yawata, A
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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
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0
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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
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0
h-index:
0
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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
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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 34 条
[1]
A SPLICE SITE MUTATION OF THE BETA-SPECTRIN GENE CAUSING EXON SKIPPING IN HEREDITARY ELLIPTOCYTOSIS ASSOCIATED WITH A TRUNCATED BETA-SPECTRIN CHAIN
GALLAGHER, PG
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YALE UNIV,SCH MED,DEPT PEDIAT,NEW HAVEN,CT 06510
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SCARPA, A
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DELAUNAY, J
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FORGET, BG
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YALE UNIV,SCH MED,DEPT PEDIAT,NEW HAVEN,CT 06510
FORGET, BG
JOURNAL OF BIOLOGICAL CHEMISTRY,
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[2]
MOLECULAR DEFECT OF TRUNCATED BETA-SPECTRIN ASSOCIATED WITH HEREDITARY ELLIPTOCYTOSIS - BETA-SPECTRIN GOTTINGEN
YOON, SH
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YOON, SH
YU, HL
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EBER, S
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PRCHAL, JT
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PRCHAL, JT
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[3]
A NEW VARIANT OF SPECTRIN WITH A LARGE BETA-SPECTRIN CHAIN ASSOCIATED WITH HEREDITARY ELLIPTOCYTOSIS (HE)
RAVINDRANATH, Y
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机构:
WAYNE STATE UNIV,SCH MED,DEPT BIOCHEM,DETROIT,MI 48201
RAVINDRANATH, Y
JOHNSON, RM
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JOHNSON, RM
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[4]
beta-Spectrin Campinas: A novel shortened beta-chain variant associated with skipping of exon 30 and hereditary elliptocytosis
Basseres, DS
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机构:
UNIV ESTADUAL CAMPINAS,HEMOCTR,BR-13081970 CAMPINAS,SP,BRAZIL
Basseres, DS
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Costa, FF
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Costa, FF
Saad, STO
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Saad, STO
BRITISH JOURNAL OF HAEMATOLOGY,
1997,
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[5]
A DELETIONAL FRAMESHIFT MUTATION OF THE BETA-SPECTRIN GENE ASSOCIATED WITH ELLIPTOCYTOSIS IN SPECTRIN TOKYO BETA(220/216)
KANZAKI, A
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KAWASAKI MED SCH, DEPT MED, DIV HEMATOL, KURASHIKI, OKAYAMA 70101, JAPAN
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RABODONIRINA, M
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KAWASAKI MED SCH, DEPT MED, DIV HEMATOL, KURASHIKI, OKAYAMA 70101, JAPAN
RABODONIRINA, M
YAWATA, Y
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WILMOTTE, R
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ATA, K
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MORLE, L
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AN INSERTIONAL FRAMESHIFT MUTATION OF THE BETA-SPECTRIN GENE ASSOCIATED WITH ELLIPTOCYTOSIS IN SPECTRIN NICE (BETA-220/216)
TSE, WT
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YALE UNIV, SCH MED,DEPT INTERNAL MED,HEMATOL SECT, 333 CEDAR ST,POB 3333, NEW HAVEN, CT 06510 USA
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YALE UNIV, SCH MED,DEPT INTERNAL MED,HEMATOL SECT, 333 CEDAR ST,POB 3333, NEW HAVEN, CT 06510 USA
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A DELETION WITHIN THE BETA-SPECTRIN GENE ASSOCIATED WITH A TRUNCATED PROTEIN AND RESULTING IN HEREDITARY SPHEROCYTOSIS BETA-SPECTRIN DURHAM
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VASSILIADIS, JN
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YI, SJ
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HANSPAL, M
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WARE, RE
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STUDIES OF THE TETRAMERIZATION SITE USING RECOMBINANT ALPHA AND BETA-SPECTRIN PEPTIDES - EFFECT OF 2 BETA-SPECTRIN MUTATIONS ASSOCIATED WITH HEREDITARY ELLIPTOCYTOSIS (HE)
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NICOLAS, G
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HOP BEAUJON,INSERM,U409,CLICHY,FRANCE
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GAUTERO, H
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HOP BEAUJON,INSERM,U409,CLICHY,FRANCE
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FOURNIER, C
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h-index:
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HOP BEAUJON,INSERM,U409,CLICHY,FRANCE
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DHERMY, D
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h-index:
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HOP BEAUJON,INSERM,U409,CLICHY,FRANCE
HOP BEAUJON,INSERM,U409,CLICHY,FRANCE
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GRANDCHAMP, B
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0
引用数:
0
h-index:
0
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HOP BEAUJON,INSERM,U409,CLICHY,FRANCE
GRANDCHAMP, B
BLOOD,
1994,
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A DELETIONAL FRAMESHIFT MUTATION IN SPECTRIN BETA-GENE ASSOCIATED WITH HEREDITARY ELLIPTOCYTOSIS IN SPECTRIN NAPOLI
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论文数:
0
引用数:
0
h-index:
0
机构:
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论文数:
0
引用数:
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h-index:
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机构:
UNIV NAPLES 2,DIPARTIMENTO PEDIAT,CLIN PEDIAT 1,I-80138 NAPLES,ITALY
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MARECHAL, J
论文数:
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引用数:
0
h-index:
0
机构:
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引用数:
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机构:
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引用数:
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h-index:
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BRITISH JOURNAL OF HAEMATOLOGY,
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[10]
DISTINCT MOLECULAR MECHANISMS ASSOCIATED WITH TRUNCATED BETA-SPECTRIN CHAINS IN HEREDITARY ELLIPTOCYTOSIS (HE)
GALLAGHER, PG
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0
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YALE UNIV,SCH MED,NEW HAVEN,CT 06510
GALLAGHER, PG
TSE, W
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0
引用数:
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h-index:
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YALE UNIV,SCH MED,NEW HAVEN,CT 06510
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GARBARZ, M
论文数:
0
引用数:
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h-index:
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机构:
YALE UNIV,SCH MED,NEW HAVEN,CT 06510
GARBARZ, M
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论文数:
0
引用数:
0
h-index:
0
机构:
YALE UNIV,SCH MED,NEW HAVEN,CT 06510
LECOMTE, MC
DHERMY, D
论文数:
0
引用数:
0
h-index:
0
机构:
YALE UNIV,SCH MED,NEW HAVEN,CT 06510
DHERMY, D
BOIVIN, P
论文数:
0
引用数:
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h-index:
0
机构:
YALE UNIV,SCH MED,NEW HAVEN,CT 06510
BOIVIN, P
DELAUNAY, J
论文数:
0
引用数:
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h-index:
0
机构:
YALE UNIV,SCH MED,NEW HAVEN,CT 06510
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FORGET, BG
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0
引用数:
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h-index:
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机构:
YALE UNIV,SCH MED,NEW HAVEN,CT 06510
FORGET, BG
CLINICAL RESEARCH,
1990,
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