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167 related items for PubMed ID: 2973464

  • 1. Multiple abnormal beta-hexosaminidase alpha chain mRNAs in a compound-heterozygous Ashkenazi Jewish patient with Tay-Sachs disease.
    Ohno K, Suzuki K.
    J Biol Chem; 1988 Dec 05; 263(34):18563-7. PubMed ID: 2973464
    [Abstract] [Full Text] [Related]

  • 2. A splicing defect due to an exon-intron junctional mutation results in abnormal beta-hexosaminidase alpha chain mRNAs in Ashkenazi Jewish patients with Tay-Sachs disease.
    Ohno K, Suzuki K.
    Biochem Biophys Res Commun; 1988 May 31; 153(1):463-9. PubMed ID: 2837213
    [Abstract] [Full Text] [Related]

  • 3. A "G" to "A" mutation at position -1 of a 5' splice site in a late infantile form of Tay-Sachs disease.
    Akli S, Chelly J, Mezard C, Gandy S, Kahn A, Poenaru L.
    J Biol Chem; 1990 May 05; 265(13):7324-30. PubMed ID: 2139660
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. 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 15; 2(1):61-7. PubMed ID: 8490625
    [Abstract] [Full Text] [Related]

  • 6. cDNA clone for the alpha-chain of human beta-hexosaminidase: deficiency of alpha-chain mRNA in Ashkenazi Tay-Sachs fibroblasts.
    Myerowitz R, Proia RL.
    Proc Natl Acad Sci U S A; 1984 Sep 15; 81(17):5394-8. PubMed ID: 6236461
    [Abstract] [Full Text] [Related]

  • 7. Tay-Sachs disease: intron 7 splice junction mutation in two Portuguese patients.
    Ribeiro MG, Pinto R, Miranda MC, Suzuki K.
    Biochim Biophys Acta; 1995 Jan 25; 1270(1):44-51. PubMed ID: 7827134
    [Abstract] [Full Text] [Related]

  • 8. Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. Extensive homology between the alpha- and beta-subunits and studies on Tay-Sachs disease.
    Korneluk RG, Mahuran DJ, Neote K, Klavins MH, O'Dowd BF, Tropak M, Willard HF, Anderson MJ, Lowden JA, Gravel RA.
    J Biol Chem; 1986 Jun 25; 261(18):8407-13. PubMed ID: 3013851
    [Abstract] [Full Text] [Related]

  • 9. A double mutation in exon 6 of the beta-hexosaminidase alpha subunit in a patient with the B1 variant of Tay-Sachs disease.
    Ainsworth PJ, Coulter-Mackie MB.
    Am J Hum Genet; 1992 Oct 25; 51(4):802-9. PubMed ID: 1415222
    [Abstract] [Full Text] [Related]

  • 10. Tay-Sachs disease in Moroccan Jews: deletion of a phenylalanine in the alpha-subunit of beta-hexosaminidase.
    Navon R, Proia RL.
    Am J Hum Genet; 1991 Feb 25; 48(2):412-9. PubMed ID: 1825014
    [Abstract] [Full Text] [Related]

  • 11. Expression of the beta-hexosaminidase alpha subunit gene with the four-base insertion of infantile Jewish Tay-Sachs disease.
    Nishimoto J, Tanaka A, Nanba E, Suzuki K.
    J Biol Chem; 1991 Aug 05; 266(22):14306-9. PubMed ID: 1830584
    [Abstract] [Full Text] [Related]

  • 12. 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
    [Abstract] [Full Text] [Related]

  • 13. A chronic GM2 gangliosidosis variant with a HEXA splicing defect: quantitation of HEXA mRNAs in normal and mutant fibroblasts.
    Fernandes MJ, Hechtman P, Boulay B, Kaplan F.
    Eur J Hum Genet; 1997 Feb 25; 5(3):129-36. PubMed ID: 9272736
    [Abstract] [Full Text] [Related]

  • 14. 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 25; 85(11):3955-9. PubMed ID: 3375249
    [Abstract] [Full Text] [Related]

  • 15. Rapid nonradioactive tracer method for detecting carriers of the major Ashkenazi Jewish Tay-Sachs disease mutations.
    Strasberg PM, Clarke JT.
    Clin Chem; 1992 Nov 25; 38(11):2249-55. PubMed ID: 1424119
    [Abstract] [Full Text] [Related]

  • 16. An A-to-G mutation at the +3 position of intron 8 of the HEXA gene is associated with exon 8 skipping and Tay-Sachs disease.
    Richard MM, Erenberg G, Triggs-Raine BL.
    Biochem Mol Med; 1995 Jun 25; 55(1):74-6. PubMed ID: 7551830
    [Abstract] [Full Text] [Related]

  • 17. The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease.
    Navon R, Proia RL.
    Science; 1989 Mar 17; 243(4897):1471-4. PubMed ID: 2522679
    [Abstract] [Full Text] [Related]

  • 18. 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 17; 47(4):698-705. PubMed ID: 2220809
    [Abstract] [Full Text] [Related]

  • 19. The major mutation among Japanese patients with infantile Tay-Sachs disease: a G-to-T transversion at the acceptor site of intron 5 of the beta-hexosaminidase alpha gene.
    Tanaka A, Sakuraba H, Isshiki G, Suzuki K.
    Biochem Biophys Res Commun; 1993 Apr 30; 192(2):539-46. PubMed ID: 8484765
    [Abstract] [Full Text] [Related]

  • 20. A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies.
    Akerman BR, Zielenski J, Triggs-Raine BL, Prence EM, Natowicz MR, Lim-Steele JS, Kaback MM, Mules EH, Thomas GH, Clarke JT.
    Hum Mutat; 1992 Apr 30; 1(4):303-9. PubMed ID: 1301938
    [Abstract] [Full Text] [Related]

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