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Sequence of human adenosine deaminase cDNA including the coding region and a small intron.
The nucleotide sequence for an unusual, cloned human adenosine deaminase cDNA has been determined. Contained within a sequence of 1535 nucleotides is a coding sequence of 1089 nucleotides that encodes a protein of 40,762 daltons. The coding sequence is interrupted by a non-coding region containing 76 nucleotides. Both the 3' and 5' ends of this region have consensus sequences generally associated with splice sites. The 3' untranslated sequence contained 308 nucleotides, including a polyadenylation signal sequence 20 nucleotides from the end. The cloned cDNA appears to correspond to a nuclear mRNA precursor which contains a small intron.
PMID: 6546794 [PubMed - indexed for MEDLINE]
PMCID: PMC318674
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Cited by 13 PubMed Central articles
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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.
Richard E, Arredondo-Vega FX, Santisteban I, Kelly SJ, Patel DD, Hershfield MS.
J Exp Med. 2000 Nov 6; 192(9):1223-36.
[J Exp Med. 2000]
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Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.
Arredondo-Vega FX, Santisteban I, Daniels S, Toutain S, Hershfield MS.
Am J Hum Genet. 1998 Oct; 63(4):1049-59.
[Am J Hum Genet. 1998]
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Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype.
Santisteban I, Arredondo-Vega FX, Kelly S, Mary A, Fischer A, Hummell DS, Lawton A, Sorensen RU, Stiehm ER, Uribe L.
J Clin Invest. 1993 Nov; 92(5):2291-302.
[J Clin Invest. 1993]
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