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Journal Abstract Search

167 related items for PubMed ID: 1401934

  • 1. 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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  • 2. Severe combined immunodeficiency of reduced severity due to homozygosity for an adenosine deaminase missense mutation (Arg253Pro).
    Hirschhorn R, Yang DR, Insel RA, Ballow M.
    Cell Immunol; 1993 Dec 01; 152(2):383-93. PubMed ID: 8258146
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  • 3. An adenosine deaminase (ADA) allele contains two newly identified deleterious mutations (Y97C and L106V) that interact to abolish enzyme activity.
    Jiang C, Hong R, Horowitz SD, Kong X, Hirschhorn R.
    Hum Mol Genet; 1997 Dec 01; 6(13):2271-8. PubMed ID: 9361033
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  • 4. Homozygosity for a missense mutation (G20R) associated with neonatal onset adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID).
    Yang DR, Huie ML, Hirschhorn R.
    Clin Immunol Immunopathol; 1994 Feb 01; 70(2):171-5. PubMed ID: 8299233
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  • 12. Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.
    Arredondo-Vega FX, Santisteban I, Daniels S, Toutain S, Hershfield MS.
    Am J Hum Genet; 1998 Oct 01; 63(4):1049-59. PubMed ID: 9758612
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  • 13. Adult onset immunodeficiency caused by inherited adenosine deaminase deficiency.
    Shovlin CL, Simmonds HA, Fairbanks LD, Deacock SJ, Hughes JM, Lechler RI, Webster AD, Sun XM, Webb JC, Soutar AK.
    J Immunol; 1994 Sep 01; 153(5):2331-9. PubMed ID: 8051429
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  • 14. Molecular basis for paradoxical carriers of adenosine deaminase (ADA) deficiency that show extremely low levels of ADA activity in peripheral blood cells without immunodeficiency.
    Ariga T, Oda N, Sanstisteban I, Arredondo-Vega FX, Shioda M, Ueno H, Terada K, Kobayashi K, Hershfield MS, Sakiyama Y.
    J Immunol; 2001 Feb 01; 166(3):1698-702. PubMed ID: 11160213
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  • 17. An Asp8Asn substitution results in the adenosine deaminase (ADA) genetic polymorphism (ADA 2 allozyme): occurrence on different chromosomal backgrounds and apparent intragenic crossover.
    Hirschhorn R, Yang DR, Israni A.
    Ann Hum Genet; 1994 Jan 01; 58(1):1-9. PubMed ID: 8031011
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  • 20. Hot spot mutations in adenosine deaminase deficiency.
    Hirschhorn R, Tzall S, Ellenbogen A.
    Proc Natl Acad Sci U S A; 1990 Aug 01; 87(16):6171-5. PubMed ID: 2166947
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