[1]
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SEQUENCE FROM NUCLEIC ACID.
TISSUE=Liver;
MEDLINE=88240360; PubMed=3377777; [NCBI, ExPASy, EBI, Israel, Japan]
Amuro N.,
Yamaura M.,
Goto Y.,
Okazaki T.;
"Molecular cloning and nucleotide sequence of the cDNA for human liver glutamate dehydrogenase precursor.";
Biochem. Biophys. Res. Commun. 152:1395-1400(1988).
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[2]
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SEQUENCE FROM NUCLEIC ACID.
TISSUE=Liver;
MEDLINE=88217927; PubMed=3368458; [NCBI, ExPASy, EBI, Israel, Japan]
Mavrothalassitis G.,
Tzimagiorgis G.,
Mitsialis A.,
Zannis V.,
Plaitakis A.,
Papamatheakis J.,
Moschonas N.;
"Isolation and characterization of cDNA clones encoding human liver glutamate dehydrogenase: evidence for a small gene family.";
Proc. Natl. Acad. Sci. U.S.A. 85:3494-3498(1988).
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[3]
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SEQUENCE FROM NUCLEIC ACID.
MEDLINE=88289377; PubMed=3399399; [NCBI, ExPASy, EBI, Israel, Japan]
Nakatani Y.,
Schneider M.E.,
Banner C.,
Freese E.;
"Complete nucleotide sequence of human glutamate dehydrogenase cDNA.";
Nucleic Acids Res. 16:6237-6237(1988).
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[4]
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SEQUENCE FROM NUCLEIC ACID.
TISSUE=Brain, and Liver;
MEDLINE=88106451; PubMed=3426581; [NCBI, ExPASy, EBI, Israel, Japan]
Nakatani Y.,
Banner C.,
von Herrat M.,
Schneider M.E.,
Smith H.H.,
Freese E.;
"Comparison of human brain and liver glutamate dehydrogenase cDNAS.";
Biochem. Biophys. Res. Commun. 149:405-410(1987).
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[5]
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SEQUENCE FROM NUCLEIC ACID.
TISSUE=Placenta;
MEDLINE=93252371; PubMed=8486350; [NCBI, ExPASy, EBI, Israel, Japan]
Michaelidis T.M.,
Tzimagiorgis G.,
Moschonas N.K.,
Papamatheakis J.;
"The human glutamate dehydrogenase gene family: gene organization and structural characterization.";
Genomics 16:150-160(1993).
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[6]
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SEQUENCE OF 301-558 FROM NUCLEIC ACID.
TISSUE=Brain;
MEDLINE=87224937; PubMed=3585334; [NCBI, ExPASy, EBI, Israel, Japan]
Banner C.,
Silverman S.,
Thomas J.W.,
Lampel K.A.,
Vitkovic L.,
Huie D.,
Wenthold R.J.;
"Isolation of a human brain cDNA for glutamate dehydrogenase.";
J. Neurochem. 49:246-252(1987).
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[7]
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SEQUENCE OF 540-558 FROM NUCLEIC ACID.
MEDLINE=93300479; PubMed=8314555; [NCBI, ExPASy, EBI, Israel, Japan]
Tzimagiorgis G.,
Leversha M.A.,
Chroniary K.,
Goulielmos G.,
Sargent C.A.,
Ferguson-Smith M.,
Moschonas N.K.;
"Structure and expression analysis of a member of the human glutamate dehydrogenase (GLUD) gene family mapped to chromosome 10p11.2.";
Hum. Genet. 91:433-438(1993).
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[8]
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SEQUENCE OF 54-558.
TISSUE=Liver;
MEDLINE=79151102; PubMed=429360; [NCBI, ExPASy, EBI, Israel, Japan]
Julliard J.H.,
Smith E.L.;
"Partial amino acid sequence of the glutamate dehydrogenase of human liver and a revision of the sequence of the bovine enzyme.";
J. Biol. Chem. 254:3427-3438(1979).
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[9]
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SEQUENCE OF 54-69.
TISSUE=Liver;
MEDLINE=93162045; PubMed=1286669; [NCBI, ExPASy, EBI, Israel, Japan]
Hochstrasser D.F.,
Frutiger S.,
Paquet N.,
Bairoch A.,
Ravier F.,
Pasquali C.,
Sanchez J.-C.,
Tissot J.-D.,
Bjellqvist B.,
Vargas R.,
Appel R.D.,
Hughes G.J.;
"Human liver protein map: a reference database established by microsequencing and gel comparison.";
Electrophoresis 13:992-1001(1992).
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[10]
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SUBSTRATE-BINDING SITE.
MEDLINE=74125870; PubMed=4856315; [NCBI, ExPASy, EBI, Israel, Japan]
Rasched I.,
Joernvall H.,
Sund H.;
"Studies of glutamate dehydrogenase. Identification of an amino group involved in the substrate binding.";
Eur. J. Biochem. 41:603-606(1974).
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[11]
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REVIEW ON VARIANTS.
MEDLINE=99268411; PubMed=10338089; [NCBI, ExPASy, EBI, Israel, Japan]
Meissner T.,
Beinbrech B.,
Mayatepek E.;
"Congenital hyperinsulinism: molecular basis of a heterogeneous disease.";
Hum. Mutat. 13:351-361(1999).
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[12]
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VARIANTS HHS LEU-498; SER-499; ASP-499; PRO-501 AND TYR-507.
MEDLINE=98223108; PubMed=9571255; [NCBI, ExPASy, EBI, Israel, Japan]
Stanley C.A.,
Lieu Y.K.,
Hsu B.Y.L.,
Burlina A.B.,
Greenberg C.R.,
Hopwood N.J.,
Perlman K.,
Rich B.H.,
Zammarchi E.,
Poncz M.;
"Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene.";
New Engl. J. Med. 338:1352-1357(1998).
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[13]
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VARIANTS HHS LYS-318 AND ALA-349.
MEDLINE=20102775; PubMed=10636977; [NCBI, ExPASy, EBI, Israel, Japan]
Miki Y.,
Taki T.,
Ohura T.,
Kato H.,
Yanagisawa M.,
Hayashi Y.;
"Novel missense mutations in the glutamate dehydrogenase gene in the congenital hyperinsulinism-hyperammonemia syndrome.";
J. Pediatr. 136:69-72(2000).
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