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Journal Abstract Search

216 related items for PubMed ID: 2976595

  • 1. Tay-Sachs disease: B1 variant.
    Gordon BA, Gordon KE, Hinton GG, Cadera W, Feleki V, Bayleran J, Hechtman P.
    Pediatr Neurol; 1988; 4(1):54-7. PubMed ID: 2976595
    [Abstract] [Full Text] [Related]

  • 2. The Val192Leu mutation in the alpha-subunit of beta-hexosaminidase A is not associated with the B1-variant form of Tay-Sachs disease.
    Hou Y, Vavougios G, Hinek A, Wu KK, Hechtman P, Kaplan F, Mahuran DJ.
    Am J Hum Genet; 1996 Jul; 59(1):52-8. PubMed ID: 8659543
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  • 3. The mutation mechanism causing juvenile-onset Tay-Sachs disease among Lebanese.
    Hechtman P, Boulay B, Bayleran J, Andermann E.
    Clin Genet; 1989 May; 35(5):364-75. PubMed ID: 2527097
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  • 4. Introduction of the alpha subunit mutation associated with the B1 variant of Tay-Sachs disease into the beta subunit produces a beta-hexosaminidase B without catalytic activity.
    Brown CA, Neote K, Leung A, Gravel RA, Mahuran DJ.
    J Biol Chem; 1989 Dec 25; 264(36):21705-10. PubMed ID: 2532211
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  • 6. Diagnosis and molecular characterization of non-classic forms of Tay-Sachs disease in Brazil.
    Rozenberg R, Kok F, Burin MG, Sá Miranda MC, Vasques C, Henriques-Souza AM, Giugliani R, Vainzof M, Pereira LV.
    J Child Neurol; 2006 Jun 25; 21(6):540-4. PubMed ID: 16948947
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  • 8. Late onset GM2 gangliosidosis: an alpha-locus genetic compound with near normal hexosaminidase activity.
    Charrow J, Inui K, Wenger DA.
    Clin Genet; 1985 Jan 25; 27(1):78-84. PubMed ID: 3156697
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  • 9. A shortened beta-hexosaminidase alpha-chain in an Italian patient with infantile Tay-Sachs disease.
    Zokaeem G, Bayleran J, Kaplan P, Hechtman P, Neufeld EF.
    Am J Hum Genet; 1987 Jun 25; 40(6):537-47. PubMed ID: 2954459
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  • 10. 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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  • 13. [Tay-Sachs disease].
    Tanaka A.
    Nihon Rinsho; 1993 Sep 25; 51(9):2281-5. PubMed ID: 8411703
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  • 15. Active arginine residues in beta-hexosaminidase. Identification through studies of the B1 variant of Tay-Sachs disease.
    Brown CA, Mahuran DJ.
    J Biol Chem; 1991 Aug 25; 266(24):15855-62. PubMed ID: 1831451
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  • 16. A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening.
    Triggs-Raine BL, Mules EH, Kaback MM, Lim-Steele JS, Dowling CE, Akerman BR, Natowicz MR, Grebner EE, Navon R, Welch JP.
    Am J Hum Genet; 1992 Oct 25; 51(4):793-801. PubMed ID: 1384323
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  • 20. A new form of residual hexosaminidase activity in infantile Tay Sachs disease fibroblasts.
    Hechtman P, Khoo K, Isaacs C.
    Clin Genet; 1983 Sep 25; 24(3):206-15. PubMed ID: 6226462
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