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Journal Abstract Search

280 related items for PubMed ID: 9272736

  • 21. A novel mutation at the invariant acceptor splice site of intron 9 in the HEXA gene [IVS9-1 G-->T] detected by a PCR-based diagnostic test.
    Brown DH, Triggs-Raine BL, McGinniss MJ, Kaback MM.
    Hum Mutat; 1995; 5(2):173-4. PubMed ID: 7749415
    [No Abstract] [Full Text] [Related]

  • 22. Novel mutations, including the second most common in Japan, in the beta-hexosaminidase alpha subunit gene, and a simple screening of Japanese patients with Tay-Sachs disease.
    Tanaka A, Fujimaru M, Choeh K, Isshiki G.
    J Hum Genet; 1999; 44(2):91-5. PubMed ID: 10083731
    [Abstract] [Full Text] [Related]

  • 23. Identification of an active acidic residue in the catalytic site of beta-hexosaminidase.
    Tse R, Vavougios G, Hou Y, Mahuran DJ.
    Biochemistry; 1996 Jun 11; 35(23):7599-607. PubMed ID: 8652542
    [Abstract] [Full Text] [Related]

  • 24. The molecular basis of HEXA mRNA deficiency caused by the most common Tay-Sachs disease mutation.
    Boles DJ, Proia RL.
    Am J Hum Genet; 1995 Mar 11; 56(3):716-24. PubMed ID: 7887427
    [Abstract] [Full Text] [Related]

  • 25. 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]

  • 26. Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests.
    Triggs-Raine BL, Feigenbaum AS, Natowicz M, Skomorowski MA, Schuster SM, Clarke JT, Mahuran DJ, Kolodny EH, Gravel RA.
    N Engl J Med; 1990 Jul 05; 323(1):6-12. PubMed ID: 2355960
    [Abstract] [Full Text] [Related]

  • 27. [Tay-Sachs disease].
    Tanaka A.
    Nihon Rinsho; 1993 Sep 05; 51(9):2281-5. PubMed ID: 8411703
    [Abstract] [Full Text] [Related]

  • 28. Two novel exonic point mutations in HEXA identified in a juvenile Tay-Sachs patient: role of alternative splicing and nonsense-mediated mRNA decay.
    Levit A, Nutman D, Osher E, Kamhi E, Navon R.
    Mol Genet Metab; 2010 Jun 05; 100(2):176-83. PubMed ID: 20363167
    [Abstract] [Full Text] [Related]

  • 29. A new point mutation (G412 to A) at the last nucleotide of exon 3 of hexosaminidase alpha-subunit gene affects splicing.
    Ozkara HA, Sandhoff K.
    Brain Dev; 2003 Apr 05; 25(3):203-6. PubMed ID: 12689701
    [Abstract] [Full Text] [Related]

  • 30. Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum.
    Ibrahim DMA, Ali OSM, Nasr H, Fateen E, AbdelAleem A.
    Orphanet J Rare Dis; 2023 Mar 13; 18(1):52. PubMed ID: 36907859
    [Abstract] [Full Text] [Related]

  • 31. Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene.
    Myerowitz R.
    Hum Mutat; 1997 Mar 13; 9(3):195-208. PubMed ID: 9090523
    [Abstract] [Full Text] [Related]

  • 32. A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease.
    Klima H, Ullrich K, Aslanidis C, Fehringer P, Lackner KJ, Schmitz G.
    J Clin Invest; 1993 Dec 13; 92(6):2713-8. PubMed ID: 8254026
    [Abstract] [Full Text] [Related]

  • 33. 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]

  • 34. Homozygosity for the common Ashkenazi jewish Tay-Sachs +1 IVS-12 splice-junction mutation: first report.
    Strasberg P, Warren I, Skomorowski MA, Feigenbaum A.
    Hum Mutat; 1997 May 31; 10(1):82-3. PubMed ID: 9222766
    [No Abstract] [Full Text] [Related]

  • 35. Mutant transcripts of the LDL receptor gene: mRNA structure and quantity.
    Rødningen OK, Tonstad S, Saugstad OD, Ose L, Leren TP.
    Hum Mutat; 1999 May 31; 13(3):186-96. PubMed ID: 10090473
    [Abstract] [Full Text] [Related]

  • 36. Pedigree discriminant analysis of two French Canadian Tay-Sachs families.
    Keats BJ, Elston RC, Andermann E.
    Genet Epidemiol; 1987 May 31; 4(2):77-85. PubMed ID: 2953646
    [Abstract] [Full Text] [Related]

  • 37. Specificity and sensitivity of hexosaminidase assays and DNA analysis for the detection of Tay-Sachs disease gene carriers among Ashkenazic Jews.
    Fernandes MJ, Kaplan F, Clow CL, Hechtman P, Scriver CR.
    Genet Epidemiol; 1992 May 31; 9(3):169-75. PubMed ID: 1387862
    [Abstract] [Full Text] [Related]

  • 38. W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis.
    Petroulakis E, Cao Z, Clarke JT, Mahuran DJ, Lee G, Triggs-Raine B.
    Hum Mutat; 1998 May 31; 11(6):432-42. PubMed ID: 9603435
    [Abstract] [Full Text] [Related]

  • 39. Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA.
    Wicklow BA, Ivanovich JL, Plews MM, Salo TJ, Noetzel MJ, Lueder GT, Cartegni L, Kaback MM, Sandhoff K, Steiner RD, Triggs-Raine BL.
    Am J Med Genet A; 2004 Jun 01; 127A(2):158-66. PubMed ID: 15108204
    [Abstract] [Full Text] [Related]

  • 40. 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]

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