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Journal Abstract Search

281 related items for PubMed ID: 2848800

  • 1. The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase.
    Myerowitz R, Costigan FC.
    J Biol Chem; 1988 Dec 15; 263(35):18587-9. PubMed ID: 2848800
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  • 2. Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group.
    Myerowitz R.
    Proc Natl Acad Sci U S A; 1988 Jun 15; 85(11):3955-9. PubMed ID: 3375249
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  • 3. An unusual genotype in an Ashkenazi Jewish patient with Tay-Sachs disease.
    Shore S, Tomczak J, Grebner EE, Myerowitz R.
    Hum Mutat; 1992 Jun 15; 1(6):486-90. PubMed ID: 1301958
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  • 4. Frequency of the Tay-Sachs disease splice and insertion mutations in the UK Ashkenazi Jewish population.
    Landels EC, Ellis IH, Fensom AH, Green PM, Bobrow M.
    J Med Genet; 1991 Mar 15; 28(3):177-80. PubMed ID: 1828838
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  • 13. Population-specific screening by mutation analysis for diseases frequent in Ashkenazi Jews.
    DeMarchi JM, Caskey CT, Richards CS.
    Hum Mutat; 1996 Mar 15; 8(2):116-25. PubMed ID: 8844209
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  • 14. Mutations of the hexosaminidase A gene in Ashkenazi and non-Ashkenazi Jews.
    Peleg L, Karpati M, Gazit E, Raas-Rothschild A, Goldman B.
    Biochem Med Metab Biol; 1994 Jun 15; 52(1):22-6. PubMed ID: 7917464
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  • 15. Normal transcription of the beta-hexosaminidase alpha-chain gene in the Ashkenazi Tay-Sachs mutation.
    Paw BH, Neufeld EF.
    J Biol Chem; 1988 Feb 25; 263(6):3012-5. PubMed ID: 2449434
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  • 16. Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients.
    Akli S, Chomel JC, Lacorte JM, Bachner L, Kahn A, Poenaru L.
    Hum Mol Genet; 1993 Jan 25; 2(1):61-7. PubMed ID: 8490625
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  • 17. Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program.
    Paw BH, Tieu PT, Kaback MM, Lim J, Neufeld EF.
    Am J Hum Genet; 1990 Oct 25; 47(4):698-705. PubMed ID: 2220809
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  • 18. Identification and rapid detection of three Tay-Sachs mutations in the Moroccan Jewish population.
    Drucker L, Proia RL, Navon R.
    Am J Hum Genet; 1992 Aug 25; 51(2):371-7. PubMed ID: 1322637
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  • 19. Beta-hexosaminidase: biosynthesis and processing of the normal enzyme, and identification of mutations causing Jewish Tay-Sachs disease.
    Mahuran DJ.
    Clin Biochem; 1995 Apr 25; 28(2):101-6. PubMed ID: 7628066
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