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Journal Abstract Search

228 related items for PubMed ID: 8943874

  • 1.
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  • 2. Mutations of conserved arginines in the membrane domain of erythroid band 3 lead to a decrease in membrane-associated band 3 and to the phenotype of hereditary spherocytosis.
    Jarolim P, Rubin HL, Brabec V, Chrobak L, Zolotarev AS, Alper SL, Brugnara C, Wichterle H, Palek J.
    Blood; 1995 Feb 01; 85(3):634-40. PubMed ID: 7530501
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  • 3. Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population.
    Yawata Y, Kanzaki A, Yawata A, Doerfler W, Ozcan R, Eber SW.
    Int J Hematol; 2000 Feb 01; 71(2):118-35. PubMed ID: 10745622
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  • 4. A nonsense mutation in the erythrocyte band 3 gene associated with decreased mRNA accumulation in a kindred with dominant hereditary spherocytosis.
    Jenkins PB, Abou-Alfa GK, Dhermy D, Bursaux E, Féo C, Scarpa AL, Lux SE, Garbarz M, Forget BG, Gallagher PG.
    J Clin Invest; 1996 Jan 15; 97(2):373-80. PubMed ID: 8567957
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  • 7. Duplication of 10 nucleotides in the erythroid band 3 (AE1) gene in a kindred with hereditary spherocytosis and band 3 protein deficiency (band 3PRAGUE).
    Jarolim P, Rubin HL, Liu SC, Cho MR, Brabec V, Derick LH, Yi SJ, Saad ST, Alper S, Brugnara C.
    J Clin Invest; 1994 Jan 15; 93(1):121-30. PubMed ID: 8282779
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  • 8. Characterization of the underlying molecular defect in hereditary spherocytosis associated with spectrin deficiency.
    Hassoun H, Vassiliadis JN, Murray J, Njolstad PR, Rogus JJ, Ballas SK, Schaffer F, Jarolim P, Brabec V, Palek J.
    Blood; 1997 Jul 01; 90(1):398-406. PubMed ID: 9207476
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  • 9. Heterogenous band 3 deficiency in hereditary spherocytosis related to different band 3 gene defects.
    Dhermy D, Galand C, Bournier O, Boulanger L, Cynober T, Schismanoff PO, Bursaux E, Tchernia G, Boivin P, Garbarz M.
    Br J Haematol; 1997 Jul 01; 98(1):32-40. PubMed ID: 9233560
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  • 10. Hereditary spherocytosis with spectrin deficiency due to an unstable truncated beta spectrin.
    Hassoun H, Vassiliadis JN, Murray J, Yi SJ, Hanspal M, Johnson CA, Palek J.
    Blood; 1996 Mar 15; 87(6):2538-45. PubMed ID: 8630421
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  • 11. Hereditary spherocytosis with spectrin deficiency related to null mutations of the beta-spectrin gene.
    Dhermy D, Galand C, Bournier O, Cynober T, Méchinaud F, Tchemia G, Garbarz M.
    Blood Cells Mol Dis; 1998 Jun 15; 24(2):251-61. PubMed ID: 9714702
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  • 13. Ankyrin gene mutations in japanese patients with hereditary spherocytosis.
    Nakanishi H, Kanzaki A, Yawata A, Yamada O, Yawata Y.
    Int J Hematol; 2001 Jan 15; 73(1):54-63. PubMed ID: 11372755
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  • 14. Simultaneous (AC)n microsatellite polymorphism analysis and single-stranded conformation polymorphism screening is an efficient strategy for detecting ankyrin-1 mutations in dominant hereditary spherocytosis.
    Ozcan R, Jarolim P, Lux SE, Ungewickell E, Eber SW.
    Br J Haematol; 2003 Aug 15; 122(4):669-77. PubMed ID: 12899723
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  • 17. Red cell membrane protein abnormalities in hereditary spherocytosis in Brazil.
    Saad ST, Costa FF, Vicentim DL, Salles TS, Pranke PH.
    Br J Haematol; 1994 Oct 15; 88(2):295-9. PubMed ID: 7803273
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  • 19. The red blood cell band 3 variant (band 3Biceêtrel:R490C) associated with dominant hereditary spherocytosis causes defective membrane targeting of the molecule and a dominant negative effect.
    Dhermy D, Burnier O, Bourgeois M, Grandchamp B.
    Mol Membr Biol; 1999 Oct 15; 16(4):305-12. PubMed ID: 10766130
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  • 20. beta-Spectrin São PauloII, a novel frameshift mutation of the beta-spectrin gene associated with hereditary spherocytosis and instability of the mutant mRNA.
    Bassères DS, Tavares AC, Costa FF, Saad ST.
    Braz J Med Biol Res; 2002 Aug 15; 35(8):921-5. PubMed ID: 12185384
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