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Results: 1 to 20 of 197

1.

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.

PMID:
3475710
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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.

PMID:
3182793
[PubMed - indexed for MEDLINE]
Free Article
3.

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
[PubMed - indexed for MEDLINE]
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.

PMID:
3839802
[PubMed - indexed for MEDLINE]
Free PMC Article
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.

PMID:
2773932
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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.

PMID:
3007108
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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.

PMID:
1939366
[PubMed - indexed for MEDLINE]
8.

Correct splicing despite mutation of the invariant first nucleotide of a 5' splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency.

Arredondo-Vega FX, Santisteban I, Kelly S, Schlossman CM, Umetsu DT, Hershfield MS.

Am J Hum Genet. 1994 May;54(5):820-30.

PMID:
8178821
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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.

PMID:
6198631
[PubMed - indexed for MEDLINE]
Free PMC Article
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
[PubMed - indexed for MEDLINE]
11.
12.

Structure of adenosine deaminase mRNAs from normal and adenosine deaminase-deficient human cell lines.

Adrian GS, Wiginton DA, Hutton JJ.

Mol Cell Biol. 1984 Sep;4(9):1712-7.

PMID:
6208479
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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
[PubMed - indexed for MEDLINE]
14.

Hot spot mutations in adenosine deaminase deficiency.

Hirschhorn R, Tzall S, Ellenbogen A.

Proc Natl Acad Sci U S A. 1990 Aug;87(16):6171-5.

PMID:
2166947
[PubMed - indexed for MEDLINE]
Free PMC Article
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.

PMID:
6200875
[PubMed - indexed for MEDLINE]
Free PMC Article
16.
17.

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.

PMID:
1974554
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Molecular basis of adenosine deaminase deficiency.

Markert ML.

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

PMID:
8032366
[PubMed - indexed for MEDLINE]
19.

A point mutation in the 5' splice region of intron 7 causes a deletion of exon 7 in adenosine deaminase mRNA.

Kawamoto H, Ito K, Kashii S, Monden S, Fujita M, Norioka M, Sasai Y, Okuma M.

J Cell Biochem. 1993 Mar;51(3):322-5.

PMID:
8501134
[PubMed - indexed for MEDLINE]
20.

Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery.

Hirschhorn R, Yang DR, Israni A, Huie ML, Ownby DR.

Am J Hum Genet. 1994 Jul;55(1):59-68.

PMID:
8023852
[PubMed - indexed for MEDLINE]
Free PMC Article

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