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Journal Abstract Search

184 related items for PubMed ID: 1680289

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  • 23. Carrier frequency of a nonsense mutation in the adenosine deaminase (ADA) gene implies a high incidence of ADA-deficient severe combined immunodeficiency (SCID) in Somalia and a single, common haplotype indicates common ancestry.
    Sanchez JJ, Monaghan G, Børsting C, Norbury G, Morling N, Gaspar HB.
    Ann Hum Genet; 2007 May; 71(Pt 3):336-47. PubMed ID: 17181544
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  • 26. Hyperbilirubinemia and rapid fatal hepatic failure in severe combined immunodeficiency caused by adenosine deaminase deficiency (ADA-SCID).
    Kühl JS, Schwarz K, Münch A, Schmugge M, Pekrun A, Meisel C, Wahn V, Ebell W, von Bernuth H.
    Klin Padiatr; 2011 Mar; 223(2):85-9. PubMed ID: 21271505
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  • 27. Comparative characterization of B-lymphoblastoid cell lines in adenosine deaminase deficiency and its heterozygote.
    Sawami H, Toyokawa Y, Ito K, Uchino H.
    Nihon Ketsueki Gakkai Zasshi; 1989 Jul; 52(4):721-9. PubMed ID: 2618547
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  • 36. Identical 3250-bp deletion between two AluI repeats in the ADA genes of unrelated ADA-SCID patients.
    Berkvens TM, van Ormondt H, Gerritsen EJ, Khan PM, van der Eb AJ.
    Genomics; 1990 Aug; 7(4):486-90. PubMed ID: 1696926
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  • 38. One adenosine deaminase allele in a patient with severe combined immunodeficiency contains a point mutation abolishing enzyme activity.
    Valerio D, Dekker BM, Duyvesteyn MG, van der Voorn L, Berkvens TM, van Ormondt H, van der Eb AJ.
    EMBO J; 1986 Jan; 5(1):113-9. PubMed ID: 3007108
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  • 39. Radioimmunochemical quantitation of human adenosine deaminase.
    Daddona PE, Frohman MA, Kelley WN.
    J Clin Invest; 1979 Sep; 64(3):798-803. PubMed ID: 468994
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  • 40. Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency.
    la Marca G, Canessa C, Giocaliere E, Romano F, Duse M, Malvagia S, Lippi F, Funghini S, Bianchi L, Della Bona ML, Valleriani C, Ombrone D, Moriondo M, Villanelli F, Speckmann C, Adams S, Gaspar BH, Hershfield M, Santisteban I, Fairbanks L, Ragusa G, Resti M, de Martino M, Guerrini R, Azzari C.
    J Allergy Clin Immunol; 2013 Jun; 131(6):1604-10. PubMed ID: 23280131
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