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Journal Abstract Search

201 related items for PubMed ID: 8257995

  • 1. Tay-Sachs disease in an Israeli Arab family: Trp26-->stop in the alpha-subunit of hexosaminidase A.
    Drucker L, Navon R.
    Hum Mutat; 1993; 2(5):415-7. PubMed ID: 8257995
    [No Abstract] [Full Text] [Related]

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  • 3. A G to C transversion in codon 258 of the alpha-subunit of beta-hexosaminidase A in an infant Tay-Sachs disease patient.
    Brewer KK.
    Hum Mutat; 1993; 2(6):496-7. PubMed ID: 8111418
    [No Abstract] [Full Text] [Related]

  • 4. Novel HEXA mutation in a Bedouin Tay-Sachs patient associated with exon skipping and reduced transcript level.
    Drucker L, Golan A, Boles DJ, el Bedour K, Proia RL, Navon R.
    Hum Mutat; 1997; 9(3):260-4. PubMed ID: 9090529
    [Abstract] [Full Text] [Related]

  • 5. Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease.
    Drucker L, Hemli JA, Navon R.
    Hum Mutat; 1997; 10(6):451-7. PubMed ID: 9401008
    [Abstract] [Full Text] [Related]

  • 6. A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family.
    Trop I, Kaplan F, Brown C, Mahuran D, Hechtman P.
    Hum Mutat; 1992; 1(1):35-9. PubMed ID: 1301189
    [Abstract] [Full Text] [Related]

  • 7. A new point mutation within exon 5 of beta-hexosaminidase alpha gene in a Japanese infant with Tay-Sachs disease.
    Nakano T, Nanba E, Tanaka A, Ohno K, Suzuki Y, Suzuki K.
    Ann Neurol; 1990 May; 27(5):465-73. PubMed ID: 2141777
    [Abstract] [Full Text] [Related]

  • 8. Molecular basis of hexosaminidase A deficiency and pseudodeficiency in the Berks County Pennsylvania Dutch.
    Mules EH, Hayflick S, Dowling CE, Kelly TE, Akerman BR, Gravel RA, Thomas GH.
    Hum Mutat; 1992 May; 1(4):298-302. PubMed ID: 1301937
    [Abstract] [Full Text] [Related]

  • 9. A novel HEXA mutation [1393G>A (D465N)] in a Mexican Tay-Sachs disease patient.
    Alvarez-Rodríguez A, Triggs-Raine B, Barros-Núñez P, Lozano CM.
    Hum Mutat; 2001 May; 17(5):437. PubMed ID: 11317368
    [No Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene.
    Myerowitz R.
    Hum Mutat; 1997 Apr 30; 9(3):195-208. PubMed ID: 9090523
    [Abstract] [Full Text] [Related]

  • 12. 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 Apr 30; 44(2):91-5. PubMed ID: 10083731
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. 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 Jun 11; 5(2):173-4. PubMed ID: 7749415
    [No Abstract] [Full Text] [Related]

  • 15. Novel Tay-Sachs disease mutations from China.
    Akalin N, Shi HP, Vavougios G, Hechtman P, Lo W, Scriver CR, Mahuran D, Kaplan F.
    Hum Mutat; 1992 Jun 11; 1(1):40-6. PubMed ID: 1301190
    [Abstract] [Full Text] [Related]

  • 16. Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene.
    Harmon DL, Gardner-Medwin D, Stirling JL.
    J Med Genet; 1993 Feb 11; 30(2):123-8. PubMed ID: 8445615
    [Abstract] [Full Text] [Related]

  • 17. Donor splice site mutation in intron 5 of the HEXA gene in a Turkish infant with Tay-Sachs disease.
    Ozkara HA, Akerman BR, Ciliv G, Topçu M, Renda Y, Gravel RA.
    Hum Mutat; 1995 Feb 11; 5(2):186-7. PubMed ID: 7749419
    [No Abstract] [Full Text] [Related]

  • 18. 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 11; 2(1):61-7. PubMed ID: 8490625
    [Abstract] [Full Text] [Related]

  • 19. Molecular basis of heat labile hexosaminidase B among Jews and Arabs.
    Narkis G, Adam A, Jaber L, Pennybacker M, Proia RL, Navon R.
    Hum Mutat; 1997 Jan 11; 10(6):424-9. PubMed ID: 9401004
    [Abstract] [Full Text] [Related]

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