[1]
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NUCLEOTIDE SEQUENCE [MRNA].
DOI=10.1093/nar/11.18.6505; PubMed=6194510 [NCBI, ExPASy, EBI, Israel, Japan]
Bock H.-G.O.,
Su T.-S.,
O'Brien W.E.,
Beaudet A.L.;
"Sequence for human argininosuccinate synthetase cDNA.";
Nucleic Acids Res. 11:6505-6512(1983).
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[2]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
PubMed=6321498 [NCBI, ExPASy, EBI, Israel, Japan]
Freytag S.O.,
Bock H.-G.O.,
Beaudet A.L.,
O'Brien W.E.;
"Molecular structures of human argininosuccinate synthetase pseudogenes. Evolutionary and mechanistic implications.";
J. Biol. Chem. 259:3160-3166(1984).
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[3]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS CTLN1 LEU-108; ARG-179; VAL-362 AND ARG-390.
DOI=10.1007/s00439-002-0686-6; PubMed=11941481 [NCBI, ExPASy, EBI, Israel, Japan]
Haeberle J.,
Pauli S.,
Linnebank M.,
Kleijer W.J.,
Bakker H.D.,
Wanders R.J.A.,
Harms E.,
Koch H.G.;
"Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia.";
Hum. Genet. 110:327-333(2002).
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[4]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Small intestine;
DOI=10.1038/ng1285; PubMed=14702039 [NCBI, ExPASy, EBI, Israel, Japan]
Ota T.,
Suzuki Y.,
Nishikawa T.,
Otsuki T.,
Sugiyama T.,
Irie R.,
Wakamatsu A.,
Hayashi K.,
Sato H.,
Nagai K.,
Kimura K.,
Makita H.,
Sekine M.,
Obayashi M.,
Nishi T.,
Shibahara T.,
Tanaka T.,
Ishii S.,
Yamamoto J., ![]()
Saito K.,
Kawai Y.,
Isono Y.,
Nakamura Y.,
Nagahari K.,
Murakami K.,
Yasuda T.,
Iwayanagi T.,
Wagatsuma M.,
Shiratori A.,
Sudo H.,
Hosoiri T.,
Kaku Y.,
Kodaira H.,
Kondo H.,
Sugawara M.,
Takahashi M.,
Kanda K.,
Yokoi T.,
Furuya T.,
Kikkawa E.,
Omura Y.,
Abe K.,
Kamihara K.,
Katsuta N.,
Sato K.,
Tanikawa M.,
Yamazaki M.,
Ninomiya K.,
Ishibashi T.,
Yamashita H.,
Murakawa K.,
Fujimori K.,
Tanai H.,
Kimata M.,
Watanabe M.,
Hiraoka S.,
Chiba Y.,
Ishida S.,
Ono Y.,
Takiguchi S.,
Watanabe S.,
Yosida M.,
Hotuta T.,
Kusano J.,
Kanehori K.,
Takahashi-Fujii A.,
Hara H.,
Tanase T.-O.,
Nomura Y.,
Togiya S.,
Komai F.,
Hara R.,
Takeuchi K.,
Arita M.,
Imose N.,
Musashino K.,
Yuuki H.,
Oshima A.,
Sasaki N.,
Aotsuka S.,
Yoshikawa Y.,
Matsunawa H.,
Ichihara T.,
Shiohata N.,
Sano S.,
Moriya S.,
Momiyama H.,
Satoh N.,
Takami S.,
Terashima Y.,
Suzuki O.,
Nakagawa S.,
Senoh A.,
Mizoguchi H.,
Goto Y.,
Shimizu F.,
Wakebe H.,
Hishigaki H.,
Watanabe T.,
Sugiyama A.,
Takemoto M.,
Kawakami B.,
Yamazaki M.,
Watanabe K.,
Kumagai A.,
Itakura S.,
Fukuzumi Y.,
Fujimori Y.,
Komiyama M.,
Tashiro H.,
Tanigami A.,
Fujiwara T.,
Ono T.,
Yamada K.,
Fujii Y.,
Ozaki K.,
Hirao M.,
Ohmori Y.,
Kawabata A.,
Hikiji T.,
Kobatake N.,
Inagaki H.,
Ikema Y.,
Okamoto S.,
Okitani R.,
Kawakami T.,
Noguchi S.,
Itoh T.,
Shigeta K.,
Senba T.,
Matsumura K.,
Nakajima Y.,
Mizuno T.,
Morinaga M.,
Sasaki M.,
Togashi T.,
Oyama M.,
Hata H.,
Watanabe M.,
Komatsu T.,
Mizushima-Sugano J.,
Satoh T.,
Shirai Y.,
Takahashi Y.,
Nakagawa K.,
Okumura K.,
Nagase T.,
Nomura N.,
Kikuchi H.,
Masuho Y.,
Yamashita R.,
Nakai K.,
Yada T.,
Nakamura Y.,
Ohara O.,
Isogai T.,
Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human cDNAs.";
Nat. Genet. 36:40-45(2004).
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[5]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Kidney, and Muscle;
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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[6]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-24.
DOI=10.1007/BF01819307; PubMed=3027451 [NCBI, ExPASy, EBI, Israel, Japan]
Jinno Y.,
Nomiyama H.,
Matuo S.,
Shimada K.,
Matsuda I.,
Saheki T.;
"Structure of the 5' end region of the human argininosuccinate synthetase gene.";
J. Inherit. Metab. Dis. 8:157-159(1985).
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[7]
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PROTEIN SEQUENCE OF 148-161.
PubMed=2788888 [NCBI, ExPASy, EBI, Israel, Japan]
Isashiki Y.,
Noda T.,
Kobayashi K.,
Sase M.,
Saheki T.,
Titani K.;
"Identification of essential arginine residue(s) for Mg-ATP binding of human argininosuccinate synthetase.";
Protein Seq. Data Anal. 2:283-287(1989).
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[8]
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PROTEIN SEQUENCE OF 200-209.
TISSUE=Colon carcinoma;
DOI=10.1002/elps.1150180344; PubMed=9150948 [NCBI, ExPASy, EBI, Israel, Japan]
Ji H.,
Reid G.E.,
Moritz R.L.,
Eddes J.S.,
Burgess A.W.,
Simpson R.J.;
"A two-dimensional gel database of human colon carcinoma proteins.";
Electrophoresis 18:605-613(1997).
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[9]
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PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-352, AND MASS SPECTROMETRY.
DOI=10.2116/analsci.24.161; PubMed=18187866 [NCBI, ExPASy, EBI, Israel, Japan]
Imami K.,
Sugiyama N.,
Kyono Y.,
Tomita M.,
Ishihama Y.;
"Automated phosphoproteome analysis for cultured cancer cells by two-dimensional nanoLC-MS using a calcined titania/C18 biphasic column.";
Anal. Sci. 24:161-166(2008).
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[10]
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VARIANTS CTLN1 SER-14; HIS-157; ASN-180; TRP-304; SER-324; TRP-363 AND ARG-390.
PubMed=2358466 [NCBI, ExPASy, EBI, Israel, Japan]
Kobayashi K.,
Jackson M.J.,
Tick D.B.,
O'Brien W.E.,
Beaudet A.L.;
"Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia.";
J. Biol. Chem. 265:11361-11367(1990).
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[11]
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VARIANTS CTLN1 LEU-18 AND CYS-86.
PubMed=1943692 [NCBI, ExPASy, EBI, Israel, Japan]
Kobayashi K.,
Rosenbloom C.,
Beaudet A.L.,
O'Brien W.E.;
"Additional mutations in argininosuccinate synthetase causing citrullinemia.";
Mol. Biol. Med. 8:95-100(1991).
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[12]
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VARIANTS CTLN1 THR-118; VAL-192; CYS-272; ARG-280; TRP-304 AND LEU-363.
PubMed=7977368 [NCBI, ExPASy, EBI, Israel, Japan]
Kobayashi K.,
Shaheen N.,
Terazono H.,
Saheki T.;
"Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia.";
Am. J. Hum. Genet. 55:1103-1112(1994).
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[13]
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CHARACTERIZATION OF SOME CTLN1 VARIANTS.
PubMed=8792870 [NCBI, ExPASy, EBI, Israel, Japan]
Shaheen N.,
Kobayashi K.,
Terazono H.,
Fukushige T.,
Horiuchi M.,
Saheki T.;
"Characterization of human wild-type and mutant argininosuccinate synthetase proteins expressed in bacterial cells.";
Enzyme Protein 48:251-264(1995).
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[14]
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VARIANTS CTLN1 ALA-69; LEU-108; ASP-117; ILE-119; GLN-270 AND ARG-390.
DOI=10.1006/mgme.2001.3221; PubMed=11708871 [NCBI, ExPASy, EBI, Israel, Japan]
Vilaseca M.A.,
Kobayashi K.,
Briones P.,
Lambruschini N.,
Campistol J.,
Tabata A.,
Alomar A.,
Rodes M.,
Lluch M.,
Saheki T.;
"Phenotype and genotype heterogeneity in Mediterranean citrullinemia.";
Mol. Genet. Metab. 74:396-398(2001).
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[15]
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VARIANTS CTLN1 ARG-19; HIS-86; SER-95; SER-96; ASP-117; SER-117; CYS-157; ARG-179; LYS-191; HIS-265; MET-269; CYS-272; LYS-283; TRP-304; GLN-310; SER-324; VAL-362; GLN-363; TRP-363; ILE-389 AND ARG-390.
DOI=10.1002/humu.10230; PubMed=12815590 [NCBI, ExPASy, EBI, Israel, Japan]
Gao H.-Z.,
Kobayashi K.,
Tabata A.,
Tsuge H.,
Iijima M.,
Yasuda T.,
Kalkanoglu H.S.,
Dursun A.,
Tokatli A.,
Coskun T.,
Trefz F.K.,
Skladal D.,
Mandel H.,
Seidel J.,
Kodama S.,
Shirane S.,
Ichida T.,
Makino S.,
Yoshino M., ![]()
Kang J.-H.,
Mizuguchi M.,
Barshop B.A.,
Fuchinoue S.,
Seneca S.,
Zeesman S.,
Knerr I.,
Rodes M.,
Wasant P.,
Yoshida I.,
De Meirleir L.,
Abdul Jalil M.,
Begum L.,
Horiuchi M.,
Katunuma N.,
Nakagawa S.,
Saheki T.;
"Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.";
Hum. Mutat. 22:24-34(2003).
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