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Journal Abstract Search

184 related items for PubMed ID: 1680289

  • 1. Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID).
    Hirschhorn R, Chakravarti V, Puck J, Douglas SD.
    Am J Hum Genet; 1991 Oct; 49(4):878-85. PubMed ID: 1680289
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  • 4. Two newly identified mutations (Thr233Ile and Leu152Met) in partially adenosine deaminase-deficient (ADA-) individuals that result in differing biochemical and metabolic phenotypes.
    Hirschhorn R, Borkowsky W, Jiang CK, Yang DR, Jenkins T.
    Hum Genet; 1997 Jul; 100(1):22-9. PubMed ID: 9225964
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  • 5. Severe combined immune deficiency due to a homozygous 3.2-kb deletion spanning the promoter and first exon of the adenosine deaminase gene.
    Berkvens TM, Gerritsen EJ, Oldenburg M, Breukel C, Wijnen JT, van Ormondt H, Vossen JM, van der Eb AJ, Meera Khan P.
    Nucleic Acids Res; 1987 Nov 25; 15(22):9365-78. PubMed ID: 3684597
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  • 9. Identification of a deletion in the adenosine deaminase gene in a child with severe combined immunodeficiency.
    Markert ML, Hershfield MS, Wiginton DA, States JC, Ward FE, Bigner SH, Buckley RH, Kaufman RE, Hutton JJ.
    J Immunol; 1987 May 15; 138(10):3203-6. PubMed ID: 3571974
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  • 10. Novel deletion and a new missense mutation (Glu 217 Lys) at the catalytic site in two adenosine deaminase alleles of a patient with neonatal onset adenosine deaminase- severe combined immunodeficiency.
    Hirschhorn R, Nicknam MN, Eng F, Yang DR, Borkowsky W.
    J Immunol; 1992 Nov 01; 149(9):3107-12. PubMed ID: 1401934
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  • 15. Erythrocyte adenosine deaminase deficiency without immunodeficiency. Evidence for an unstable mutant enzyme.
    Hirschhorn R, Roegner V, Jenkins T, Seaman C, Piomelli S, Borkowsky W.
    J Clin Invest; 1979 Oct 01; 64(4):1130-9. PubMed ID: 479373
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  • 16. Adenosine deaminase deficiency.
    Hirschhorn R.
    Immunodefic Rev; 1990 Oct 01; 2(3):175-98. PubMed ID: 2078332
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  • 18. Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency.
    Hirschhorn R, Tzall S, Ellenbogen A, Orkin SH.
    J Clin Invest; 1989 Feb 01; 83(2):497-501. PubMed ID: 2783588
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  • 20. Genetic heterogeneity in adenosine deaminase (ADA) deficiency: five different mutations in five new patients with partial ADA deficiency.
    Hirschhorn R, Ellenbogen A.
    Am J Hum Genet; 1986 Jan 01; 38(1):13-25. PubMed ID: 3946419
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