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Journal Abstract Search

124 related items for PubMed ID: 8774051

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  • 2. 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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  • 5. A novel complex allele and two new point mutations in type 2 (acute neuronopathic) Gaucher disease.
    Sinclair G, Choy FY, Humphries L.
    Blood Cells Mol Dis; 1998 Dec 28; 24(4):420-7. PubMed ID: 9851895
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  • 6. Identification and characterization of a novel mutation c.1090G>T (G325W) and nine common mutant alleles leading to Gaucher disease in Spanish patients.
    Torralba MA, Pérez-Calvo JI, Pastores GM, Cenarro A, Giraldo P, Pocoví M.
    Blood Cells Mol Dis; 2001 Dec 28; 27(2):489-95. PubMed ID: 11259172
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  • 7. 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 28; 26(4):307-11. PubMed ID: 11042032
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  • 8. Functional characterization of the novel mutation IVS 8 (-11delC) (-14T>A) in the intron 8 of the glucocerebrosidase gene of two Italian siblings with Gaucher disease type I.
    Romano M, Danek GM, Baralle FE, Mazzotti R, Filocamo M.
    Blood Cells Mol Dis; 2000 Jun 28; 26(3):171-6. PubMed ID: 10950936
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  • 9. Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene.
    Emre S, Gürakan F, Yüce A, Rolf A, Scott R, Ozen H.
    Eur J Med Genet; 2008 Jun 28; 51(4):315-21. PubMed ID: 18586596
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  • 10. Mutation analysis of an Ashkenazi Jewish family with Gaucher disease in three successive generations.
    Kolodny EH, Firon N, Eyal N, Horowitz M.
    Am J Med Genet; 1990 Aug 28; 36(4):467-72. PubMed ID: 2117855
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  • 11. Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.
    Stone DL, Tayebi N, Orvisky E, Stubblefield B, Madike V, Sidransky E.
    Hum Mutat; 2000 Aug 28; 15(2):181-8. PubMed ID: 10649495
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  • 12. Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles.
    Choy FY, Zhang W, Shi HP, Zay A, Campbell T, Tang N, Ferreira P.
    Blood Cells Mol Dis; 2007 Aug 28; 38(3):287-93. PubMed ID: 17196853
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  • 14. Molecular characterization of type 3 (neuronopathic) Gaucher disease in Thai patients.
    Suwannarat P, Keeratichamroen S, Wattanasirichaigoon D, Ngiwsara L, Cairns JR, Svasti J, Visudtibhan A, Pangkanon S.
    Blood Cells Mol Dis; 2007 Aug 28; 39(3):348-52. PubMed ID: 17689991
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  • 15. Gaucher disease in Romanian patients: incidence of the most common mutations and phenotypic manifestations.
    Drugan C, Procopciuc L, Jebeleanu G, Grigorescu-Sido P, Dussau J, Poenaru L, Caillaud C.
    Eur J Hum Genet; 2002 Sep 28; 10(9):511-5. PubMed ID: 12173027
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  • 16. Parkinsonism among Gaucher disease carriers.
    Goker-Alpan O, Schiffmann R, LaMarca ME, Nussbaum RL, McInerney-Leo A, Sidransky E.
    J Med Genet; 2004 Dec 28; 41(12):937-40. PubMed ID: 15591280
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  • 17. Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients.
    Amaral O, Marcão A, Sá Miranda M, Desnick RJ, Grace ME.
    Eur J Hum Genet; 2000 Feb 28; 8(2):95-102. PubMed ID: 10757640
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  • 18. DNA analysis of an uncommon missense mutation in a Gaucher disease patient of Jewish-Polish-Russian descent.
    Choy FY, Wei C, Applegarth DA, McGillivray BC.
    Am J Med Genet; 1994 Jun 01; 51(2):156-60. PubMed ID: 7916532
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  • 19. Glucocerebrosidase genotype of Gaucher patients in The Netherlands: limitations in prognostic value.
    Boot RG, Hollak CE, Verhoek M, Sloof P, Poorthuis BJ, Kleijer WJ, Wevers RA, van Oers MH, Mannens MM, Aerts JM, van Weely S.
    Hum Mutat; 1997 Jun 01; 10(5):348-58. PubMed ID: 9375849
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  • 20. Analysis of nonsense-mediated mRNA decay in mutant alleles identified in Spanish Gaucher disease patients.
    Montfort M, Chabás A, Vilageliu L, Grinberg D.
    Blood Cells Mol Dis; 2006 Jun 01; 36(1):46-52. PubMed ID: 16326120
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