[1]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANTS SER-1266; LEU-1283 AND ASN-1406.
TISSUE=Liver;
DOI=10.1016/0378-1119(91)90336-A; PubMed=1840546 [NCBI, ExPASy, EBI, Israel, Japan]
Haraguchi Y.,
Uchino T.,
Takiguchi M.,
Endo F.,
Mori M.,
Matsuda I.;
"Cloning and sequence of a cDNA encoding human carbamyl phosphate synthetase I: molecular analysis of hyperammonemia.";
Gene 107:335-340(1991).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT CPS1D MET-544, AND VARIANT ALA-344.
TISSUE=Liver;
DOI=10.1002/(SICI)1098-1004(1998)12:3<206::AID-HUMU8>3.3.CO;2-K; PubMed=9711878 [NCBI, ExPASy, EBI, Israel, Japan]
Finckh U.,
Kohlschuetter A.,
Schaefer H.,
Sperhake K.,
Colombo J.-P.,
Gal A.;
"Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1.";
Hum. Mutat. 12:206-211(1998).
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[3]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANTS ALA-344; SER-1376 AND ASN-1406.
DOI=10.1016/S0378-1119(03)00528-6; PubMed=12853138 [NCBI, ExPASy, EBI, Israel, Japan]
Summar M.L.,
Hall L.D.,
Eeds A.M.,
Hutcheson H.B.,
Kuo A.N.,
Willis A.S.,
Rubio V.,
Arvin M.K.,
Schofield J.P.,
Dawson E.P.;
"Characterization of genomic structure and polymorphisms in the human carbamyl phosphate synthetase I gene.";
Gene 311:51-57(2003).
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[4]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
TISSUE=Testis;
Huo R.,
Zhu H.,
Huang X.Y.,
Xu Z.Y.,
Lu L.,
Xu M.,
Yin L.L.,
Li J.M.,
Zhou Z.M.,
Sha J.H.;
"Cloning of an isoform of CPS1 gene related to spermatogenesis.";
Submitted (JUN-2003) to the EMBL/GenBank/DDBJ databases.
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[5]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), VARIANTS CPS1D GLY-457 AND ARG-810, AND VARIANT ASN-1406.
DOI=10.1002/humu.9184; PubMed=12955727 [NCBI, ExPASy, EBI, Israel, Japan]
Funghini S.,
Donati M.A.,
Pasquini E.,
Zammarchi E.,
Morrone A.;
"Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions.";
Hum. Mutat. 22:340-341(2003).
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[6]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), AND VARIANTS CPS1D SER-843 AND GLU-875.
DOI=10.1002/humu.9118; PubMed=12655559 [NCBI, ExPASy, EBI, Israel, Japan]
Haeberle J.,
Schmidt E.,
Pauli S.,
Rapp B.,
Christensen E.,
Wermuth B.,
Koch H.G.;
"Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onset.";
Hum. Mutat. 21:444-444(2003).
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[7]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 795-1500.
TISSUE=Small intestine;
The German cDNA consortium;
Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases.
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[8]
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VARIANT CPS1D ARG-337.
DOI=10.1159/000053360; PubMed=11474210 [NCBI, ExPASy, EBI, Israel, Japan]
Aoshima T.,
Kajita M.,
Sekido Y.,
Kikuchi S.,
Yasuda I.,
Saheki T.,
Watanabe K.,
Shimokata K.,
Niwa T.;
"Novel mutations (H337R and 238-362del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency.";
Hum. Hered. 52:99-101(2001).
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[9]
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VARIANT ASN-1406.
DOI=10.1056/NEJM200106143442404; PubMed=11407344 [NCBI, ExPASy, EBI, Israel, Japan]
Pearson D.L.,
Dawling S.,
Walsh W.F.,
Haines J.L.,
Christman B.W.,
Bazyk A.,
Scott N.,
Summar M.L.;
"Neonatal pulmonary hypertension -- urea-cycle intermediates, nitric oxide production, and carbamoyl-phosphate synthetase function.";
N. Engl. J. Med. 344:1832-1838(2001).
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[10]
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VARIANTS CPS1D HIS-850 AND PRO-918.
DOI=10.1023/B:BOLI.0000045842.59768.ea; PubMed=15617192 [NCBI, ExPASy, EBI, Israel, Japan]
Wakutani Y.,
Nakayasu H.,
Takeshima T.,
Adachi M.,
Kawataki M.,
Kihira K.,
Sawada H.,
Bonno M.,
Yamamoto H.,
Nakashima K.;
"Mutational analysis of carbamoylphosphate synthetase I deficiency in three Japanese patients.";
J. Inherit. Metab. Dis. 27:787-788(2004).
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[11]
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VARIANTS CPS1D SER-843 AND GLU-875.
DOI=10.1002/pd.884; PubMed=15164414 [NCBI, ExPASy, EBI, Israel, Japan]
Haeberle J.,
Koch H.G.;
"Genetic approach to prenatal diagnosis in urea cycle defects.";
Prenat. Diagn. 24:378-383(2004).
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