Stop codon in Exon 30 (E2069X) of beta-spectrin gene associated with hereditary elliptocytosis in spectrin Nagoya

被引:0
作者
Maillet, P
Inoue, T
Kanzaki, A
Yawata, A
Kato, K
Baklouti, F
Delaunay, J
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
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Q3 [遗传学];
学科分类号
071007 ; 090102 ;
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页码:366 / 368
页数:3
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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
    MORLE, L
    MARECHAL, J
    ROUX, AF
    DUCLUZEAU, MT
    GUETARNI, D
    POTHIER, B
    BAKLOUTI, F
    GHANEM, A
    KASTALLY, R
    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
    TSE, WT
    GALLAGHER, PG
    PICAT, C
    LECOMTE, MC
    GALIBERT, F
    DHERMY, D
    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
    RICHARDS, B
    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
    GAUTERO, H
    BOURNIER, O
    GALAND, C
    LAHARY, A
    VANNIER, JP
    GARBARZ, M
    DELAUNAY, J
    TCHERNIA, G
    BOIVIN, P
    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
    ROUX, AF
    ALLOISIO, N
    POTHIER, B
    STARCK, J
    DENOROY, L
    MORLE, F
    RUDIGOZ, RC
    FORGET, BG
    DELAUNAY, J
    GODET, J
    [J]. JOURNAL OF CLINICAL INVESTIGATION, 1990, 86 (02) : 548 - 554
  • [10] PARQUET N, 1994, BLOOD, V84, P303