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Journal Abstract Search

153 related items for PubMed ID: 25558695

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  • 6. New insights into the origin of the Gaucher disease-causing mutation N370S: extended haplotype analysis using the 5GC3.2, 5470 G/A, and ITG6.2 polymorphisms.
    Rodríguez-Marí A, Díaz-Font A, Chabás A, Pastores GM, Grinberg D, Vilageliu L.
    Blood Cells Mol Dis; 2001; 27(5):950-9. PubMed ID: 11783960
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  • 7. High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews.
    Zimran A, Gelbart T, Westwood B, Grabowski GA, Beutler E.
    Am J Hum Genet; 1991 Oct; 49(4):855-9. PubMed ID: 1897529
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  • 8. 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; 63(4):281-8. PubMed ID: 9635296
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  • 9. Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2.
    Roa BB, Boyd AA, Volcik K, Richards CS.
    Nat Genet; 1996 Oct; 14(2):185-7. PubMed ID: 8841191
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  • 10. Gaucher disease: N370S glucocerebrosidase gene frequency in the Portuguese population.
    Lacerda L, Amaral O, Pinto R, Oliveira P, Aerts J, Sá Miranda MC.
    Clin Genet; 1994 Jun; 45(6):298-300. PubMed ID: 7923859
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  • 11. Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients.
    Horowitz M, Tzuri G, Eyal N, Berebi A, Kolodny EH, Brady RO, Barton NW, Abrahamov A, Zimran A.
    Am J Hum Genet; 1993 Oct; 53(4):921-30. PubMed ID: 8213821
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  • 12. [Frequency of the Gaucher mutation among recent Russian immigrants].
    Hodish I, Elstein D, Abrahamov A, Lonshakova N, Zimran A.
    Harefuah; 1995 Jun 15; 128(12):757-8, 824. PubMed ID: 7557682
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  • 13. The 1226G (N370S) Gaucher mutation among patients with Legg-Calve-Perthes disease.
    Kenet G, Hayek S, Mor M, Lubetsky A, Miller L, Rosenberg N, Mosheiff R, Itzchaki M, Elstein D, Wientroub S, Zimran A.
    Blood Cells Mol Dis; 2003 Jun 15; 31(1):72-4. PubMed ID: 12850487
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  • 14. The 1604A (R496H) mutation in Gaucher disease: genotype/phenotype correlation.
    Brautbar A, Elstein D, Abrahamov A, Zeigler M, Chicco G, Beutler E, Scott CR, Zimran A.
    Blood Cells Mol Dis; 2003 Jun 15; 31(2):187-9; discussion 190-1. PubMed ID: 12972024
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  • 15. Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations.
    Diaz GA, Gelb BD, Risch N, Nygaard TG, Frisch A, Cohen IJ, Miranda CS, Amaral O, Maire I, Poenaru L, Caillaud C, Weizberg M, Mistry P, Desnick RJ.
    Am J Hum Genet; 2000 Jun 15; 66(6):1821-32. PubMed ID: 10777718
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  • 18. Frequency of carriers of chronic (type I) Gaucher disease in Ashkenazi Jews.
    Matoth Y, Chazan S, Cnaan A, Gelernter I, Klibansky C.
    Am J Med Genet; 1987 Jul 15; 27(3):561-5. PubMed ID: 3631130
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  • 19. 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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  • 20. Linkage to Gaucher mutations in the Ashkenazi population: effect of drift on decay of linkage disequilibrium and evidence for heterozygote selection.
    Boas FE.
    Blood Cells Mol Dis; 2000 Aug 07; 26(4):348-59. PubMed ID: 11042036
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