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Journal Abstract Search

268 related items for PubMed ID: 8941647

  • 1. Combination of two mutant alpha spectrin alleles underlies a severe spherocytic hemolytic anemia.
    Wichterle H, Hanspal M, Palek J, Jarolim P.
    J Clin Invest; 1996 Nov 15; 98(10):2300-7. PubMed ID: 8941647
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  • 2. Murine recessive hereditary spherocytosis, sph/sph, is caused by a mutation in the erythroid alpha-spectrin gene.
    Wandersee NJ, Birkenmeier CS, Gifford EJ, Mohandas N, Barker JE.
    Hematol J; 2000 Nov 15; 1(4):235-42. PubMed ID: 11920196
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  • 4. A 5' splice region G-->C mutation in exon 3 of the human beta-spectrin gene leads to decreased levels of beta-spectrin mRNA and is responsible for dominant hereditary spherocytosis (spectrin Guemene-Penfao).
    Garbarz M, Galand C, Bibas D, Bournier O, Devaux I, Harousseau JL, Grandchamp B, Dhermy D.
    Br J Haematol; 1998 Jan 15; 100(1):90-8. PubMed ID: 9450796
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  • 5. 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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  • 7. [Disorders of the membrane skeleton of erythrocytes in hereditary spherocytosis and elliptocytosis: significance of the molecular defect for pathogenesis and clinical severity].
    Eber SW.
    Klin Padiatr; 1991 Mar 15; 203(4):284-95. PubMed ID: 1942935
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  • 10. 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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  • 11. Beta spectrin kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1.
    Becker PS, Tse WT, Lux SE, Forget BG.
    J Clin Invest; 1993 Aug 15; 92(2):612-6. PubMed ID: 8102379
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  • 12. Beta-spectrinBari: a truncated beta-chain responsible for dominant hereditary spherocytosis.
    Perrotta S, Della Ragione F, Rossi F, Avvisati RA, Di Pinto D, De Mieri G, Scianguetta S, Mancusi S, De Falco L, Marano V, Iolascon A.
    Haematologica; 2009 Dec 15; 94(12):1753-7. PubMed ID: 19608679
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  • 16. Different impacts of alleles alphaLEPRA and alphaLELY as assessed versus a novel, virtually null allele of the SPTA1 gene in trans.
    Delaunay J, Nouyrigat V, Proust A, Schischmanoff PO, Cynober T, Yvart J, Gaillard C, Danos O, Tchernia G.
    Br J Haematol; 2004 Oct 15; 127(1):118-22. PubMed ID: 15384986
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  • 17. A novel essential splice site variant in SPTB in a large hereditary spherocytosis family.
    Nieminen TT, Liyanarachchi S, Comiskey DF, Wang Y, Li W, Hendrickson IV, Brock P, de la Chapelle A, He H.
    Mol Genet Genomic Med; 2021 May 15; 9(5):e1641. PubMed ID: 33943044
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  • 18. Amino-acid substitution in alpha-spectrin commonly coinherited with nondominant hereditary spherocytosis.
    Tse WT, Gallagher PG, Jenkins PB, Wang Y, Benoit L, Speicher D, Winkelmann JC, Agre P, Forget BG, Marchesi SL.
    Am J Hematol; 1997 Mar 15; 54(3):233-41. PubMed ID: 9067503
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  • 20. Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis.
    Maillet P, Alloisio N, Morlé L, Delaunay J.
    Hum Mutat; 1996 Mar 15; 8(2):97-107. PubMed ID: 8844207
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