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Items: 1 to 20 of 165

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.

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.

3.

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 5;263(31):16291-6.

4.

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 25;12(2):1015-24.

5.

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.

PMID:
1696926
6.

Normal and mutant human adenosine deaminase genes.

Akeson AL, Wiginton DA, Hutton JJ.

J Cell Biochem. 1989 Mar;39(3):217-28. Review.

PMID:
2651461
7.

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.

8.

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 10;258(21):12753-6.

9.

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. No abstract available.

10.

Molecular biology of the adenosine deaminase gene and messenger RNA.

Hutton JJ, Wiginton DA.

Ann N Y Acad Sci. 1985;451:227-37.

PMID:
3865573
11.

Molecular basis of adenosine deaminase deficiency.

Markert ML.

Immunodeficiency. 1994;5(2):141-57. Review.

PMID:
8032366
12.

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.

PMID:
3571974
13.
14.

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.

15.

[Adenosine deaminase activity and immune dysfunction (author's transl)].

Bremer H, Bauer I, Brock J.

Allerg Immunol (Leipz). 1981;27(1):3-13. Review. German.

PMID:
6455054
16.

Adenosine deaminase deficiency.

Hirschhorn R.

Immunodefic Rev. 1990;2(3):175-98. Review.

PMID:
2078332
18.

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 1;153(5):2331-9.

PMID:
8051429
20.

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