[1]
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NUCLEOTIDE SEQUENCE [MRNA].
PubMed=6090454 [NCBI, ExPASy, EBI, Israel, Japan]
Daddona P.E.,
Shewach D.S.,
Kelley W.N.,
Argos P.,
Markham A.F.,
Orkin S.H.;
"Human adenosine deaminase. cDNA and complete primary amino acid sequence.";
J. Biol. Chem. 259:12101-12106(1984).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA].
DOI=10.1093/nar/12.5.2439; PubMed=6546794 [NCBI, ExPASy, EBI, Israel, Japan]
Wiginton D.A.,
Adrian G.S.,
Hutton J.J.;
"Sequence of human adenosine deaminase cDNA including the coding region and a small intron.";
Nucleic Acids Res. 12:2439-2446(1984).
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[3]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
PubMed=3839456 [NCBI, ExPASy, EBI, Israel, Japan]
Valerio D.,
Duyvesteyn M.G.C.,
Dekker B.M.M.,
Weeda G.,
Berkvens T.M.,
van der Voorn L.,
van Ormondt H.,
van der Eb A.J.;
"Adenosine deaminase: characterization and expression of a gene with a remarkable promoter.";
EMBO J. 4:437-443(1985).
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[4]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
DOI=10.1021/bi00373a017; PubMed=3028473 [NCBI, ExPASy, EBI, Israel, Japan]
Wiginton D.A.,
Kaplan D.J.,
States J.C.,
Akeson A.L.,
Perme C.M.,
Bilyk I.J.,
Vaughn A.J.,
Lattier D.L.,
Hutton J.J.;
"Complete sequence and structure of the gene for human adenosine deaminase.";
Biochemistry 25:8234-8244(1986).
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[5]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Thymus;
Totoki Y.,
Toyoda A.,
Takeda T.,
Sakaki Y.,
Tanaka A.,
Yokoyama S.;
Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
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[6]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/414865a; PubMed=11780052 [NCBI, ExPASy, EBI, Israel, Japan]
Deloukas P.,
Matthews L.H.,
Ashurst J.L.,
Burton J.,
Gilbert J.G.R.,
Jones M.,
Stavrides G.,
Almeida J.P.,
Babbage A.K.,
Bagguley C.L.,
Bailey J.,
Barlow K.F.,
Bates K.N.,
Beard L.M.,
Beare D.M.,
Beasley O.P.,
Bird C.P.,
Blakey S.E.,
Bridgeman A.M., ![]()
Brown A.J.,
Buck D.,
Burrill W.D.,
Butler A.P.,
Carder C.,
Carter N.P.,
Chapman J.C.,
Clamp M.,
Clark G.,
Clark L.N.,
Clark S.Y.,
Clee C.M.,
Clegg S.,
Cobley V.E.,
Collier R.E.,
Connor R.E.,
Corby N.R.,
Coulson A.,
Coville G.J.,
Deadman R.,
Dhami P.D.,
Dunn M.,
Ellington A.G.,
Frankland J.A.,
Fraser A.,
French L.,
Garner P.,
Grafham D.V.,
Griffiths C.,
Griffiths M.N.D.,
Gwilliam R.,
Hall R.E.,
Hammond S.,
Harley J.L.,
Heath P.D.,
Ho S.,
Holden J.L.,
Howden P.J.,
Huckle E.,
Hunt A.R.,
Hunt S.E.,
Jekosch K.,
Johnson C.M.,
Johnson D.,
Kay M.P.,
Kimberley A.M.,
King A.,
Knights A.,
Laird G.K.,
Lawlor S.,
Lehvaeslaiho M.H.,
Leversha M.A.,
Lloyd C.,
Lloyd D.M.,
Lovell J.D.,
Marsh V.L.,
Martin S.L.,
McConnachie L.J.,
McLay K.,
McMurray A.A.,
Milne S.A.,
Mistry D.,
Moore M.J.F.,
Mullikin J.C.,
Nickerson T.,
Oliver K.,
Parker A.,
Patel R.,
Pearce T.A.V.,
Peck A.I.,
Phillimore B.J.C.T.,
Prathalingam S.R.,
Plumb R.W.,
Ramsay H.,
Rice C.M.,
Ross M.T.,
Scott C.E.,
Sehra H.K.,
Shownkeen R.,
Sims S.,
Skuce C.D.,
Smith M.L.,
Soderlund C.,
Steward C.A.,
Sulston J.E.,
Swann R.M.,
Sycamore N.,
Taylor R.,
Tee L.,
Thomas D.W.,
Thorpe A.,
Tracey A.,
Tromans A.C.,
Vaudin M.,
Wall M.,
Wallis J.M.,
Whitehead S.L.,
Whittaker P.,
Willey D.L.,
Williams L.,
Williams S.A.,
Wilming L.,
Wray P.W.,
Hubbard T.,
Durbin R.M.,
Bentley D.R.,
Beck S.,
Rogers J.;
"The DNA sequence and comparative analysis of human chromosome 20.";
Nature 414:865-871(2001).
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[7]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Brain, and Placenta;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[8]
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PROTEIN SEQUENCE OF 2-11, ACETYLATION AT ALA-2, AND MASS SPECTROMETRY.
TISSUE=B-cell lymphoma;
Bienvenut W.V.;
Submitted (AUG-2004) to UniProtKB.
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[9]
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NUCLEOTIDE SEQUENCE [MRNA] OF 141-363.
PubMed=6688808 [NCBI, ExPASy, EBI, Israel, Japan]
Orkin S.H.,
Daddona P.E.,
Shewach D.S.,
Markham A.F.,
Bruns G.A.,
Goff S.C.,
Kelley W.N.;
"Molecular cloning of human adenosine deaminase gene sequences.";
J. Biol. Chem. 258:12753-12756(1983).
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[10]
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VARIANT ADA*2 ASN-8.
DOI=10.1111/j.1469-1809.1994.tb00720.x; PubMed=8031011 [NCBI, ExPASy, EBI, Israel, Japan]
Hirschhorn R.,
Yang D.R.,
Israni A.;
"An Asp8Asn substitution results in the adenosine deaminase (ADA) genetic polymorphism (ADA 2 allozyme): occurrence on different chromosomal backgrounds and apparent intragenic crossover.";
Ann. Hum. Genet. 58:1-9(1994).
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[11]
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VARIANTS ADASCID.
PubMed=6208479 [NCBI, ExPASy, EBI, Israel, Japan]
Adrian G.S.,
Wiginton D.A.,
Hutton J.;
"Structure of adenosine deaminase mRNAs from normal and adenosine deaminase-deficient human cell lines.";
Mol. Cell. Biol. 4:1712-1717(1984).
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[12]
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VARIANT ADASCID GLN-101.
PubMed=3839802 [NCBI, ExPASy, EBI, Israel, Japan]
Bonthron D.T.,
Markham A.F.,
Ginsburg D.,
Orkin S.H.;
"Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency.";
J. Clin. Invest. 76:894-897(1985).
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[13]
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VARIANTS ADASCID TRP-101; HIS-211 AND VAL-329.
PubMed=3182793 [NCBI, ExPASy, EBI, Israel, Japan]
Akeson A.L.,
Wiginton D.A.,
Dusing M.R.,
States J.C.,
Hutton J.J.;
"Mutant human adenosine deaminase alleles and their expression by transfection into fibroblasts.";
J. Biol. Chem. 263:16291-16296(1988).
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[14]
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VARIANT ADASCID GLN-297.
PubMed=2783588 [NCBI, ExPASy, EBI, Israel, Japan]
Hirschhorn R.,
Tzall S.,
Ellenbogen A.,
Orkin S.H.;
"Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency.";
J. Clin. Invest. 83:497-501(1989).
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[15]
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VARIANTS ADASCID CYS-156 AND LEU-291.
DOI=10.1002/humu.1380010214; PubMed=1284479 [NCBI, ExPASy, EBI, Israel, Japan]
Hirschhorn R.;
"Identification of two new missense mutations (R156C and S291L) in two ADA-SCID patients unusual for response to therapy with partial exchange transfusions.";
Hum. Mutat. 1:166-168(1992).
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[16]
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VARIANTS ADASCID LEU-101; HIS-156 AND MET-177.
PubMed=8227344 [NCBI, ExPASy, EBI, Israel, Japan]
Santisteban I.,
Arredondo-Vega F.X.,
Kelly S.,
Mary A.,
Fischer A.,
Hummell D.S.,
Lawton A.,
Sorensen R.U.,
Stiehm E.R.,
Uribe L.,
Weinberg K.,
Hershfield M.S.;
"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.";
J. Clin. Invest. 92:2291-2302(1993).
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[17]
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VARIANT ADASCID ARG-20.
DOI=10.1006/clin.1994.1026; PubMed=8299233 [NCBI, ExPASy, EBI, Israel, Japan]
Yang D.R.,
Huie M.L.,
Hirschhorn R.;
"Homozygosity for a missense mutation (G20R) associated with neonatal onset adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID).";
Clin. Immunol. Immunopathol. 70:171-175(1994).
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[18]
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VARIANT ADASCID GLN-142, AND VARIANT ARG-80.
DOI=10.1093/hmg/4.11.2081; PubMed=8589684 [NCBI, ExPASy, EBI, Israel, Japan]
Santisteban I.,
Arredondo-Vega F.X.,
Kelly S.,
Loubser M.,
Meydan N.,
Roifman C.,
Howell P.L.,
Bowen T.,
Weinberg K.I.,
Schroeder M.L.,
Hershfield M.S.;
"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.";
Hum. Mol. Genet. 4:2081-2087(1995).
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[19]
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VARIANTS ADASCID ASP-15; ASP-83 AND ASP-179.
DOI=10.1002/humu.1380050309; PubMed=7599635 [NCBI, ExPASy, EBI, Israel, Japan]
Santisteban I.,
Arredondo-Vega F.X.,
Kelly S.,
Debre M.,
Fisher A.,
Perignon J.L.,
Hilman B.,
Eldahr J.,
Dreyfus D.H.,
Gelfand E.W.,
Howell P.L.,
Hershfield M.S.;
"Four new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5' splice site.";
Hum. Mutat. 5:243-250(1995).
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[20]
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VARIANTS ADASCID MET-152 AND ILE-233.
DOI=10.1007/s004390050460; PubMed=9225964 [NCBI, ExPASy, EBI, Israel, Japan]
Hirschhorn R.,
Borkowsky W.,
Jiang C.-K.,
Yang D.R.,
Jenkins T.;
"Two newly identified mutations (Thr233Ile and Leu152Met) in partially adenosine deaminase-deficient (ADA-) individuals that result in differing biochemical and metabolic phenotypes.";
Hum. Genet. 100:22-29(1997).
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[21]
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VARIANTS ADASCID CYS-74; MET-129; GLU-140; TRP-149 AND PRO-199.
Arredondo-Vega F.X.,
Santisteban I.,
Notarangelo L.D.,
el Dahr J.,
Buckley R.,
Roifman C.,
Conley M.E.,
Hershfield M.S.;
"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.";
Hum. Mutat. 11:482-482(1998).
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[22]
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EFFECT OF VARIANT ADA*2 ASN-8 ON SLEEP.
DOI=10.1073/pnas.0505414102; PubMed=16221767 [NCBI, ExPASy, EBI, Israel, Japan]
Retey J.V.,
Adam M.,
Honegger E.,
Khatami R.,
Luhmann U.F.O.,
Jung H.H.,
Berger W.,
Landolt H.-P.;
"A functional genetic variation of adenosine deaminase affects the duration and intensity of deep sleep in humans.";
Proc. Natl. Acad. Sci. U.S.A. 102:15676-15681(2005).
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