181 related articles for article (PubMed ID: 3007108)
1. 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
[TBL] [Abstract][Full Text] [Related]
2. 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
[TBL] [Abstract][Full Text] [Related]
3. Mutations in the human adenosine deaminase gene that affect protein structure and RNA splicing.
Akeson AL; Wiginton DA; States JC; Perme CM; Dusing MR; Hutton JJ
Proc Natl Acad Sci U S A; 1987 Aug; 84(16):5947-51. PubMed ID: 3475710
[TBL] [Abstract][Full Text] [Related]
4. Mutant human adenosine deaminase alleles and their expression by transfection into fibroblasts.
Akeson AL; Wiginton DA; Dusing MR; States JC; Hutton JJ
J Biol Chem; 1988 Nov; 263(31):16291-6. PubMed ID: 3182793
[TBL] [Abstract][Full Text] [Related]
5. 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
[TBL] [Abstract][Full Text] [Related]
6. Adenosine deaminase (ADA) deficiency in cells derived from humans with severe combined immunodeficiency is due to an aberration of the ADA protein.
Valerio D; Duyvesteyn MG; van Ormondt H; Meera Khan P; van der Eb AJ
Nucleic Acids Res; 1984 Jan; 12(2):1015-24. PubMed ID: 6198631
[TBL] [Abstract][Full Text] [Related]
7. 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
[TBL] [Abstract][Full Text] [Related]
8. cDNA and amino acid sequence of human adenosine deaminase.
Daddona PE; Orkin SH; Shewach DS; Kelley WN
Ann N Y Acad Sci; 1985; 451():238-44. PubMed ID: 3878119
[No Abstract] [Full Text] [Related]
9. Somatic cell genetics of adenosine deaminase expression and severe combined immunodeficiency disease in humans.
Koch G; Shows TB
Proc Natl Acad Sci U S A; 1980 Jul; 77(7):4211-5. PubMed ID: 6933468
[TBL] [Abstract][Full Text] [Related]
10. 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
[TBL] [Abstract][Full Text] [Related]
11. 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; 38(1):13-25. PubMed ID: 3946419
[TBL] [Abstract][Full Text] [Related]
12. Molecular cloning of human adenosine deaminase gene sequences.
Orkin SH; Daddona PE; Shewach DS; Markham AF; Bruns GA; Goff SC; Kelley WN
J Biol Chem; 1983 Nov; 258(21):12753-6. PubMed ID: 6688808
[TBL] [Abstract][Full Text] [Related]
13. Basic defect in the expression of adenosine deaminase in ADA- SCID disease investigated through the cells of an obligate heterozygote.
Herbschleb-Voogt E; Pearson PL; Vossen JM; Meera Khan P
Hum Genet; 1981; 56(3):379-86. PubMed ID: 7239521
[TBL] [Abstract][Full Text] [Related]
14. Adenosine deaminase (ADA) deficiency due to deletion of the ADA gene promoter and first exon by homologous recombination between two Alu elements.
Markert ML; Hutton JJ; Wiginton DA; States JC; Kaufman RE
J Clin Invest; 1988 May; 81(5):1323-7. PubMed ID: 3366897
[TBL] [Abstract][Full Text] [Related]
15. Cloning of cDNA sequences of human adenosine deaminase.
Wiginton DA; Adrian GS; Friedman RL; Suttle DP; Hutton JJ
Proc Natl Acad Sci U S A; 1983 Dec; 80(24):7481-5. PubMed ID: 6200875
[TBL] [Abstract][Full Text] [Related]
16. 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
[TBL] [Abstract][Full Text] [Related]
17. 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; 138(10):3203-6. PubMed ID: 3571974
[TBL] [Abstract][Full Text] [Related]
18. Molecular biology of the adenosine deaminase gene and messenger RNA.
Hutton JJ; Wiginton DA
Ann N Y Acad Sci; 1985; 451():227-37. PubMed ID: 3865573
[TBL] [Abstract][Full Text] [Related]
19. [Adenosine deaminase activity and immune dysfunction (author's transl)].
Bremer H; Bauer I; Brock J
Allerg Immunol (Leipz); 1981; 27(1):3-13. PubMed ID: 6455054
[TBL] [Abstract][Full Text] [Related]
20. Transient expression of human adenosine deaminase cDNAs: identification of a nonfunctional clone resulting from a single amino acid substitution.
Orkin SH; Goff SC; Kelley WN; Daddona PE
Mol Cell Biol; 1985 Apr; 5(4):762-7. PubMed ID: 3838797
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]