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Year | Number of Results |
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1994 | 1 |
1995 | 2 |
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The binding site of human adenosine deaminase for CD26/Dipeptidyl peptidase IV: the Arg142Gln mutation impairs binding to cd26 but does not cause immune deficiency.
J Exp Med. 2000 Nov 6;192(9):1223-36. doi: 10.1084/jem.192.9.1223.
J Exp Med. 2000.
PMID: 11067872
Free PMC article.
Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del. Mutations in brief no. 142. Online.
Arrendondo-Vega FX, Santisteban I, Notarangelo LD, El Dahr J, Buckley R, Roifman C, Conley ME, Hershfield MS.
Arrendondo-Vega FX, et al.
Hum Mutat. 1998;11(6):482. doi: 10.1002/(SICI)1098-1004(1998)11:6<482::AID-HUMU15>3.0.CO;2-E.
Hum Mutat. 1998.
PMID: 10200056
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Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA.
Santisteban I, Arredondo-Vega FX, Kelly S, Loubser M, Meydan N, Roifman C, Howell PL, Bowen T, Weinberg KI, Schroeder ML, et al.
Santisteban I, et al.
Hum Mol Genet. 1995 Nov;4(11):2081-7. doi: 10.1093/hmg/4.11.2081.
Hum Mol Genet. 1995.
PMID: 8589684
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Four new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5' splice site.
Santisteban I, Arredondo-Vega FX, Kelly S, Debre M, Fischer A, Pérignon JL, Hilman B, elDahr J, Dreyfus DH, Gelfand EW, et al.
Santisteban I, et al.
Hum Mutat. 1995;5(3):243-50. doi: 10.1002/humu.1380050309.
Hum Mutat. 1995.
PMID: 7599635
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Heterogeneity of phenotype in two siblings with adenosine deaminase deficiency.
Umetsu DT, Schlossman CM, Ochs HD, Hershfield MS.
Umetsu DT, et al.
J Allergy Clin Immunol. 1994 Feb;93(2):543-50. doi: 10.1016/0091-6749(94)90365-4.
J Allergy Clin Immunol. 1994.
PMID: 8120281
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