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Journal Abstract Search

104 related items for PubMed ID: 1996872

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  • 3. 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
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  • 5. 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 30; 27(5):465-73. PubMed ID: 2141777
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  • 10. [Tay-Sachs disease].
    Tanaka A.
    Nihon Rinsho; 1993 Sep 30; 51(9):2281-5. PubMed ID: 8411703
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  • 14. Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease.
    Drucker L, Hemli JA, Navon R.
    Hum Mutat; 1997 Sep 30; 10(6):451-7. PubMed ID: 9401008
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  • 15. 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 Sep 30; 5(3):129-36. PubMed ID: 9272736
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  • 17. 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 30; 2(1):61-7. PubMed ID: 8490625
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