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4. Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency. Bonthron DT, Markham AF, Ginsburg D, Orkin SH. J Clin Invest; 1985 Aug; 76(2):894-7. PubMed ID: 3839802 [Abstract] [Full Text] [Related]
5. Normal and mutant human adenosine deaminase genes. Akeson AL, Wiginton DA, Hutton JJ. J Cell Biochem; 1989 Mar; 39(3):217-28. PubMed ID: 2651461 [Abstract] [Full Text] [Related]
6. Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combine immunodeficiency. Arredondo-Vega FX, Kurtzberg J, Chaffee S, Santisteban I, Reisner E, Povey MS, Hershfield MS. J Clin Invest; 1990 Aug; 86(2):444-52. PubMed ID: 1974554 [Abstract] [Full Text] [Related]
10. 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; 152(2):383-93. PubMed ID: 8258146 [Abstract] [Full Text] [Related]
11. A high proportion of ADA point mutations associated with a specific alanine-to-valine substitution. Markert ML, Norby-Slycord C, Ward FE. Am J Hum Genet; 1989 Sep; 45(3):354-61. PubMed ID: 2773932 [Abstract] [Full Text] [Related]
15. Identification and characterization of nine RFLPs at the adenosine deaminase (ADA) locus. Tzall S, Ellenbogen A, Eng F, Hirschhorn R. Am J Hum Genet; 1989 Jun; 44(6):864-75. PubMed ID: 2567118 [Abstract] [Full Text] [Related]
17. Adenosine deaminase deficiency due to heterozygous abnormality consisting of a deletion of exon 7 and the absence of enzyme mRNA. Kashii S, Ito K, Monden S, Sasai Y, Tsuchida K, Fujita M, Kawamoto H, Norioka M, Okuma M. J Cell Biochem; 1991 Sep; 47(1):49-53. PubMed ID: 1939366 [Abstract] [Full Text] [Related]
18. 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 [Abstract] [Full Text] [Related]