[1]
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NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Liver;
PubMed=1438360 [NCBI, ExPASy, EBI, Israel, Japan]
Goodman S.I.,
Kratz L.E.,
Frerman F.E.;
"Pork and human cDNAs encoding glutaryl-CoA dehydrogenase.";
Prog. Clin. Biol. Res. 375:169-173(1992).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS LONG AND SHORT), AND VARIANT GA-I HIS-295.
TISSUE=Liver;
DOI=10.1093/hmg/4.9.1493; PubMed=8541831 [NCBI, ExPASy, EBI, Israel, Japan]
Goodman S.I.,
Kratz L.E.,
Digiulio K.A.,
Biery B.J.,
Goodman K.E.,
Isaya G.,
Frerman F.E.;
"Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli.";
Hum. Mol. Genet. 4:1493-1498(1995).
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[3]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS GA-I.
DOI=10.1007/s004390050720; PubMed=9600243 [NCBI, ExPASy, EBI, Israel, Japan]
Schwartz M.,
Christensen E.,
Superti-Furga A.,
Brandt N.J.;
"The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I.";
Hum. Genet. 102:452-458(1998).
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[4]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM LONG).
Kalnine N.,
Chen X.,
Rolfs A.,
Halleck A.,
Hines L.,
Eisenstein S.,
Koundinya M.,
Raphael J.,
Moreira D.,
Kelley T.,
LaBaer J.,
Lin Y.,
Phelan M.,
Farmer A.;
"Cloning of human full-length CDSs in BD Creator(TM) system donor vector.";
Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
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[5]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature02399; PubMed=15057824 [NCBI, ExPASy, EBI, Israel, Japan]
Grimwood J.,
Gordon L.A.,
Olsen A.S.,
Terry A.,
Schmutz J.,
Lamerdin J.E.,
Hellsten U.,
Goodstein D.,
Couronne O.,
Tran-Gyamfi M.,
Aerts A.,
Altherr M.,
Ashworth L.,
Bajorek E.,
Black S.,
Branscomb E.,
Caenepeel S.,
Carrano A.V.,
Caoile C., ![]()
Chan Y.M.,
Christensen M.,
Cleland C.A.,
Copeland A.,
Dalin E.,
Dehal P.,
Denys M.,
Detter J.C.,
Escobar J.,
Flowers D.,
Fotopulos D.,
Garcia C.,
Georgescu A.M.,
Glavina T.,
Gomez M.,
Gonzales E.,
Groza M.,
Hammon N.,
Hawkins T.,
Haydu L.,
Ho I.,
Huang W.,
Israni S.,
Jett J.,
Kadner K.,
Kimball H.,
Kobayashi A.,
Larionov V.,
Leem S.-H.,
Lopez F.,
Lou Y.,
Lowry S.,
Malfatti S.,
Martinez D.,
McCready P.M.,
Medina C.,
Morgan J.,
Nelson K.,
Nolan M.,
Ovcharenko I.,
Pitluck S.,
Pollard M.,
Popkie A.P.,
Predki P.,
Quan G.,
Ramirez L.,
Rash S.,
Retterer J.,
Rodriguez A.,
Rogers S.,
Salamov A.,
Salazar A.,
She X.,
Smith D.,
Slezak T.,
Solovyev V.,
Thayer N.,
Tice H.,
Tsai M.,
Ustaszewska A.,
Vo N.,
Wagner M.,
Wheeler J.,
Wu K.,
Xie G.,
Yang J.,
Dubchak I.,
Furey T.S.,
DeJong P.,
Dickson M.,
Gordon D.,
Eichler E.E.,
Pennacchio L.A.,
Richardson P.,
Stubbs L.,
Rokhsar D.S.,
Myers R.M.,
Rubin E.M.,
Lucas S.M.;
"The DNA sequence and biology of human chromosome 19.";
Nature 428:529-535(2004).
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[6]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM LONG).
TISSUE=Lymph;
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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[7]
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REVIEW ON VARIANTS.
DOI=10.1002/(SICI)1098-1004(1998)12:3<141::AID-HUMU1>3.0.CO;2-K; PubMed=9711871 [NCBI, ExPASy, EBI, Israel, Japan]
Goodman S.I.,
Stein D.E.,
Schlesinger S.,
Christensen E.,
Schwartz M.,
Greenberg C.R.,
Elpeleg O.N.;
"Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations.";
Hum. Mutat. 12:141-144(1998).
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[8]
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VARIANTS GA-I.
PubMed=8900227 [NCBI, ExPASy, EBI, Israel, Japan]
Biery B.J.,
Stein D.E.,
Morton D.H.,
Goodman S.I.;
"Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish.";
Am. J. Hum. Genet. 59:1006-1011(1996).
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[9]
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VARIANTS GA-I ARG-101; PRO-283; THR-293; LEU-305; ARG-390 AND ILE-416.
PubMed=8900228 [NCBI, ExPASy, EBI, Israel, Japan]
Anikster Y.,
Shaag A.,
Joseph A.,
Mandel H.,
Ben-Zeev B.,
Christensen E.,
Elpeleg O.N.;
"Glutaric aciduria type I in the Arab and Jewish communities in Israel.";
Am. J. Hum. Genet. 59:1012-1018(1996).
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