[1]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG).
TISSUE=Kidney;
PubMed=8761662 [NCBI, ExPASy, EBI, Israel, Japan]
Aral B.,
Schlenzig J.S.,
Liu G.,
Kamoun P.;
"Database cloning human delta 1-pyrroline-5-carboxylate synthetase (P5CS) cDNA: a bifunctional enzyme catalyzing the first 2 steps in proline biosynthesis.";
C. R. Acad. Sci. III, Sci. Vie 319:171-178(1996).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS LONG AND SHORT), AND ENZYME REGULATION.
TISSUE=Small intestine;
DOI=10.1074/jbc.274.10.6754; PubMed=10037775 [NCBI, ExPASy, EBI, Israel, Japan]
Hu C.A.,
Lin W.-W.,
Obie C.,
Valle D.;
"Molecular enzymology of mammalian delta1-pyrroline-5-carboxylate synthase. Alternative splice donor utilization generates isoforms with different sensitivity to ornithine inhibition.";
J. Biol. Chem. 274:6754-6762(1999).
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[3]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature02462; PubMed=15164054 [NCBI, ExPASy, EBI, Israel, Japan]
Deloukas P.,
Earthrowl M.E.,
Grafham D.V.,
Rubenfield M.,
French L.,
Steward C.A.,
Sims S.K.,
Jones M.C.,
Searle S.,
Scott C.,
Howe K.,
Hunt S.E.,
Andrews T.D.,
Gilbert J.G.R.,
Swarbreck D.,
Ashurst J.L.,
Taylor A.,
Battles J.,
Bird C.P., ![]()
Ainscough R.,
Almeida J.P.,
Ashwell R.I.S.,
Ambrose K.D.,
Babbage A.K.,
Bagguley C.L.,
Bailey J.,
Banerjee R.,
Bates K.,
Beasley H.,
Bray-Allen S.,
Brown A.J.,
Brown J.Y.,
Burford D.C.,
Burrill W.,
Burton J.,
Cahill P.,
Camire D.,
Carter N.P.,
Chapman J.C.,
Clark S.Y.,
Clarke G.,
Clee C.M.,
Clegg S.,
Corby N.,
Coulson A.,
Dhami P.,
Dutta I.,
Dunn M.,
Faulkner L.,
Frankish A.,
Frankland J.A.,
Garner P.,
Garnett J.,
Gribble S.,
Griffiths C.,
Grocock R.,
Gustafson E.,
Hammond S.,
Harley J.L.,
Hart E.,
Heath P.D.,
Ho T.P.,
Hopkins B.,
Horne J.,
Howden P.J.,
Huckle E.,
Hynds C.,
Johnson C.,
Johnson D.,
Kana A.,
Kay M.,
Kimberley A.M.,
Kershaw J.K.,
Kokkinaki M.,
Laird G.K.,
Lawlor S.,
Lee H.M.,
Leongamornlert D.A.,
Laird G.,
Lloyd C.,
Lloyd D.M.,
Loveland J.,
Lovell J.,
McLaren S.,
McLay K.E.,
McMurray A.,
Mashreghi-Mohammadi M.,
Matthews L.,
Milne S.,
Nickerson T.,
Nguyen M.,
Overton-Larty E.,
Palmer S.A.,
Pearce A.V.,
Peck A.I.,
Pelan S.,
Phillimore B.,
Porter K.,
Rice C.M.,
Rogosin A.,
Ross M.T.,
Sarafidou T.,
Sehra H.K.,
Shownkeen R.,
Skuce C.D.,
Smith M.,
Standring L.,
Sycamore N.,
Tester J.,
Thorpe A.,
Torcasso W.,
Tracey A.,
Tromans A.,
Tsolas J.,
Wall M.,
Walsh J.,
Wang H.,
Weinstock K.,
West A.P.,
Willey D.L.,
Whitehead S.L.,
Wilming L.,
Wray P.W.,
Young L.,
Chen Y.,
Lovering R.C.,
Moschonas N.K.,
Siebert R.,
Fechtel K.,
Bentley D.,
Durbin R.M.,
Hubbard T.,
Doucette-Stamm L.,
Beck S.,
Smith D.R.,
Rogers J.;
"The DNA sequence and comparative analysis of human chromosome 10.";
Nature 429:375-381(2004).
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[4]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM LONG).
TISSUE=Brain;
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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[5]
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VARIANT P5CS DEFICIENCY GLN-84, AND CHARACTERIZATION OF VARIANT P5CS DEFICIENCY GLN-84.
DOI=10.1093/hmg/9.19.2853; PubMed=11092761 [NCBI, ExPASy, EBI, Israel, Japan]
Baumgartner M.R.,
Hu C.A.,
Almashanu S.,
Steel G.,
Obie C.,
Aral B.,
Rabier D.,
Kamoun P.,
Saudubray J.-M.,
Valle D.;
"Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase.";
Hum. Mol. Genet. 9:2853-2858(2000).
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