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Journal Abstract Search

132 related items for PubMed ID: 7833951

  • 1. Erroneous assignment of Gaucher disease genotype as a consequence of a complete gene deletion.
    Beutler E, Gelbart T.
    Hum Mutat; 1994; 4(3):212-6. PubMed ID: 7833951
    [Abstract] [Full Text] [Related]

  • 2. 55-base pair deletion in certain patients with Gaucher disease complicates screening for common Gaucher alleles.
    Tayebi N, Stern H, Dymarskaia I, Herman J, Sidransky E.
    Am J Med Genet; 1996 Dec 18; 66(3):316-9. PubMed ID: 8985494
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  • 3. Linkage disequilibrium of common Gaucher disease mutations with a polymorphic site in the pyruvate kinase (PKLR) gene.
    Rockah R, Narinsky R, Frydman M, Cohen IJ, Zaizov R, Weizman A, Frisch A.
    Am J Med Genet; 1998 Jul 07; 78(3):233-6. PubMed ID: 9677056
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  • 4. Structure and linkage relationships of the region containing the human L-type pyruvate kinase (PKLR) and glucocerebrosidase (GBA) genes.
    Demina A, Boas E, Beutler E.
    Hematopathol Mol Hematol; 1998 Jul 07; 11(2):63-71. PubMed ID: 9608355
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  • 5. Identification of a novel recombinant allele in three unrelated Italian Gaucher patients: implications for prognosis and genetic counseling.
    Filocamo M, Bonuccelli G, Mazzotti R, Giona F, Gatti R.
    Blood Cells Mol Dis; 2000 Aug 07; 26(4):307-11. PubMed ID: 11042032
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  • 6. Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi Jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locus.
    Reissner K, Tayebi N, Stubblefield BK, Koprivica V, Blitzer M, Holleran W, Cowan T, Almashanu S, Maddalena A, Karson EM, Sidransky E.
    Mol Genet Metab; 1998 Apr 07; 63(4):281-8. PubMed ID: 9635296
    [Abstract] [Full Text] [Related]

  • 7. Glucocerebrosidase pseudogene variation and Gaucher disease: Recognizing pseudogene tracts in GBA alleles.
    Martínez-Arias R, Comas D, Mateu E, Bertranpetit J.
    Hum Mutat; 2001 Mar 07; 17(3):191-8. PubMed ID: 11241841
    [Abstract] [Full Text] [Related]

  • 8. A new gene-pseudogene fusion allele due to a recombination in intron 2 of the glucocerebrosidase gene causes Gaucher disease.
    Cormand B, Díaz A, Grinberg D, Chabás A, Vilageliu L.
    Blood Cells Mol Dis; 2000 Oct 07; 26(5):409-16. PubMed ID: 11112377
    [Abstract] [Full Text] [Related]

  • 9. Molecular analysis of Gaucher disease in a Vietnamese-Czechoslovak patient with high residual glucocerebrosidase activity.
    Choy FY, Woo M, Der Kaloustian VM.
    Am J Med Genet; 1991 Jun 15; 39(4):466-71. PubMed ID: 1877626
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  • 10. Identification of a 55-bp deletion in the glucocerebrosidase gene in Gaucher disease: phenotypic presentation and implications for mutation detection assays.
    Mao R, O'Brien JF, Rao S, Schmitt E, Roa B, Feldman GL, Spence WC, Snow K.
    Mol Genet Metab; 2001 Mar 15; 72(3):248-53. PubMed ID: 11243731
    [Abstract] [Full Text] [Related]

  • 11. Mutation analysis of 28 Gaucher disease patients: the Australasian experience.
    Lewis BD, Nelson PV, Robertson EF, Morris CP.
    Am J Med Genet; 1994 Jan 15; 49(2):218-23. PubMed ID: 8116672
    [Abstract] [Full Text] [Related]

  • 12. RecTL: a complex allele of the glucocerebrosidase gene associated with a mild clinical course of Gaucher disease.
    Zimran A, Horowitz M.
    Am J Med Genet; 1994 Mar 01; 50(1):74-8. PubMed ID: 8160756
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  • 14. Gaucher disease: functional expression of the normal glucocerebrosidase and Gaucher T1366G and G1604A alleles in Baculovirus-transfected Spodoptera frugiperda cells.
    Choy FY, Wei C, Levin D.
    Am J Med Genet; 1996 Oct 28; 65(3):184-9. PubMed ID: 9240741
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  • 18. Three Gaucher-disease-producing mutations in a patient with Gaucher disease: mechanism and diagnostic implications.
    Beutler E, Liebman H, Gelbart T, Stefanski E.
    Acta Haematol; 2000 Oct 28; 104(2-3):103-5. PubMed ID: 11154983
    [Abstract] [Full Text] [Related]

  • 19. Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P).
    Brown JT, Lahey C, Laosinchai-Wolf W, Hadd AG.
    BMC Med Genet; 2006 Aug 03; 7():69. PubMed ID: 16887033
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