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Horwich A.L. , Fenton W.A. , Williams K.R. , Kalousek F. , Kraus J.P. , Doolittle R.F. , Konigsberg W. , Rosenberg L.E.
Science224:1068-1074(1984) [PubMed] [Europe PMC] [Abstract]

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"Complete sequencing and characterization of 21,243 full-length human cDNAs."
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Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence of the human X chromosome."
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Mural R.J. , Istrail S. , Sutton G.G. , Florea L. , Halpern A.L. , Mobarry C.M. , Lippert R. , Walenz B. , Shatkay H. , Dew I. , Miller J.R. , Flanigan M.J. , Edwards N.J. , Bolanos R. , Fasulo D. , Halldorsson B.V. , Hannenhalli S. , Turner R. , Yooseph S. , Lu F. , Nusskern D.R. , Shue B.C. , Zheng X.H. , Zhong F. , Delcher A.L. , Huson D.H. , Kravitz S.A. , Mouchard L. , Reinert K. , Remington K.A. , Clark A.G. , Waterman M.S. , Eichler E.E. , Adams M.D. , Hunkapiller M.W. , Myers E.W. , Venter J.C. more...
Submitted (2005-09) to the EMBL/GenBank/DDBJ databases

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Arginine in the leader peptide is required for both import and proteolytic cleavage of a mitochondrial precursor."
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"Lysine 88 acetylation negatively regulates ornithine carbamoyltransferase activity in response to nutrient signals."
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"1.85-A resolution crystal structure of human ornithine transcarbamoylase complexed with N-phosphonacetyl-L-ornithine. Catalytic mechanism and correlation with inherited deficiency."
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"Crystal structure of human ornithine transcarbamylase complexed with carbamoyl phosphate and L-norvaline at 1.9 A resolution."
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"Mutations and polymorphisms in the human ornithine transcarbamylase gene."
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Hum. Mutat.2:174-178(1993) [PubMed] [Europe PMC] [Abstract]

"Mutations and polymorphisms in the human ornithine transcarbamylase gene: mutation update addendum."
Tuchman M. , Plante R.J.
Hum. Mutat.5:293-295(1995) [PubMed] [Europe PMC] [Abstract]

"The molecular basis of ornithine transcarbamylase deficiency: modelling the human enzyme and the effects of mutations."
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J. Med. Genet.32:680-688(1995) [PubMed] [Europe PMC] [Abstract]

"Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency."
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"Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage."
Grompe M. , Muzny D.M. , Caskey C.T.
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"Use of denaturing gradient gel electrophoresis for detection of mutation and prospective diagnosis in late onset ornithine transcarbamylase deficiency."
Finkelstein J.E. , Francomano C.A. , Brusilow S.W. , Traystman M.D.
Genomics7:167-172(1990) [PubMed] [Europe PMC] [Abstract]

"Improved molecular diagnostics for ornithine transcarbamylase deficiency."
Grompe M. , Caskey C.T. , Fenwick R.G. Jr.
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"Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene."
Hentzen D. , Pelet A. , Feldman D. , Rabier D. , Berthelot J. , Munnich A.
Hum. Genet.88:153-156(1991) [PubMed] [Europe PMC] [Abstract]

"Six new mutations in the ornithine transcarbamylase gene detected by single-strand conformational polymorphism."
Tuchman M. , Holzknecht R.A. , Gueron A.B. , Berry S.A. , Tsai M.Y.
Pediatr. Res.32:600-604(1992) [PubMed] [Europe PMC] [Abstract]

"Single-strand conformational polymorphism and direct sequencing applied to carrier testing in families with ornithine transcarbamylase deficiency."
Tsai M.Y. , Holzknecht R.A. , Tuchman M.
Hum. Genet.91:321-325(1993) [PubMed] [Europe PMC] [Abstract]

"The ornithine transcarbamylase gene: new 'private' mutations in four patients and study of a polymorphism."
Tuchman M. , Plante R.J. , Giguere Y. , Lemieux B.
Hum. Mutat.3:318-320(1994) [PubMed] [Europe PMC] [Abstract]

"Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency."
Matsuura T. , Hoshide R. , Kiwaki K. , Komaki S. , Koike E. , Endo F. , Oyanagi K. , Suzuki Y. , Kato I. , Ishikawa K. , Yoda H. , Kamitani S. , Sakaki Y. , Matsuda I.
Hum. Mutat.3:402-406(1994) [PubMed] [Europe PMC] [Abstract]

"Seven new mutations in the human ornithine transcarbamylase gene."
Tuchman M. , Plante R.J. , McCann M.T. , Qureshi A.A.
Hum. Mutat.4:57-60(1994) [PubMed] [Europe PMC] [Abstract]

"A splicing mutation, a nonsense mutation (Y167X) and two missense mutations (I159T and A209V) in Spanish patients with ornithine transcarbamylase deficiency."
Garcia-Perez M.A. , Sanjurjo P. , Briones P. , Garcia-Munoz M.J. , Rubio V.
Hum. Genet.96:549-551(1995) [PubMed] [Europe PMC] [Abstract]

"A novel point mutation at codon 269 of the ornithine transcarbamylase (OTC) gene causing neonatal onset of OTC deficiency."
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J. Inherit. Metab. Dis.18:356-357(1995) [PubMed] [Europe PMC] [Abstract]

"Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia."
Gilbert-Dussardier B. , Segues B. , Rozet J.-M. , Rabier D. , Calvas P. , de Lumley L. , Bonnefont J.-P. , Munnich A.
Hum. Mutat.8:74-76(1996) [PubMed] [Europe PMC] [Abstract]

"Genotype-phenotype correlations in ornithine transcarbamylase deficiency."
Guardamagna O. , Gatti E. , Parini R. , Plante R.J. , Tuchman M.
Enzyme Protein49:191-191(1996)

"Ornithine transcarbamylase deficiency: characterization of gene mutations and polymorphisms."
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Hum. Mutat.8:333-339(1996) [PubMed] [Europe PMC] [Abstract]

"A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma."
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Hum. Mutat.8:373-374(1996) [PubMed] [Europe PMC] [Abstract]

"Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families."
Yoo H.-W. , Kim G.-H. , Lee D.-H.
J. Inherit. Metab. Dis.19:31-42(1996) [PubMed] [Europe PMC] [Abstract]

"The ornithine transcarbamylase (OTC) gene: mutations in 50 Japanese families with OTC deficiency."
Matsuda I. , Tanase S.
Am. J. Med. Genet.71:378-383(1997) [PubMed] [Europe PMC] [Abstract]

"Expression, purification and kinetic characterization of wild-type human ornithine transcarbamylase and a recurrent mutant that produces 'late onset' hyperammonaemia."
Morizono H. , Tuchman M. , Rajagopal B.S. , McCann M.T. , Listrom C.D. , Yuan X. , Venugopal D. , Barany G. , Allewell N.M.
Biochem. J.322:625-631(1997) [PubMed] [Europe PMC] [Abstract]

"Ornithine transcarbamylase deficiency: ten new mutations and high proportion of de novo mutations in heterozygous females."
Oppliger Leibundgut E. , Liechti-Gallati S. , Colombo J.-P. , Wermuth B.
Hum. Mutat.9:409-411(1997) [PubMed] [Europe PMC] [Abstract]

"Identification of 'private' mutations in patients with ornithine transcarbamylase deficiency."
Tuchman M. , Morizono H. , Rajagopal B.S. , Plante R.J. , Allewell N.M.
J. Inherit. Metab. Dis.20:525-527(1997) [PubMed] [Europe PMC] [Abstract]

"Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency."
Shimadzu M. , Matsumoto H. , Matsuura T. , Kobayashi K. , Komaki S. , Kiwaki K. , Hoshide R. , Endo F. , Saheki T. , Matsuda I.
Hum. Mutat. Suppl.1:S5-S7(1998) [PubMed] [Europe PMC] [Abstract]

"Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemia."
Calvas P. , Seques B. , Rozet J.-M. , Rabier D. , Bonnefont J.-P. , Munnich A.
Hum. Mutat. Suppl.1:S81-S84(1998) [PubMed] [Europe PMC] [Abstract]

"Y55D mutation in ornithine transcarbamylase associated with late-onset hyperammonemia in a male."
Nishiyori A. , Yoshino M. , Tananari Y. , Matsuura T. , Hoshide R. , Matsuda I. , Mori M. , Kato H.
Hum. Mutat. Suppl.1:S131-S133(1998) [PubMed] [Europe PMC] [Abstract]

"A novel missense mutation in the human ornithine transcarbamylase gene."
Bartholomew D.W. , McClellan J.
Hum. Mutat.12:220-220(1998)

"Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency."
Climent C. , Garcia-Perez M.A. , Sanjurjo P. , Ruiz-Sanz J.-I. , Vilaseca M.A. , Pineda M. , Campistol J. , Rubio V.
Hum. Mutat.14:352-353(1999) [PubMed] [Europe PMC] [Abstract]

"Three novel and one recurrent ornithine carbamoyltransferase gene mutations in Polish patients."
Popowska E. , Ciara E. , Rokicki D. , Pronicka E.
J. Inherit. Metab. Dis.22:92-93(1999) [PubMed] [Europe PMC] [Abstract]

"Lymphocyte mRNA analysis of the ornithine transcarbamylase gene in Italian OTCD male patients and manifesting carriers: identification of novel mutations."
Giorgi M. , Morrone A. , Donati M.A. , Ciani F. , Bardelli T. , Biasucci G. , Zammarchi E.
Hum. Mutat.15:380-381(2000) [PubMed] [Europe PMC] [Abstract]

"Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency."
Climent C. , Rubio V.
Hum. Mutat.19:185-186(2002) [PubMed] [Europe PMC] [Abstract]

"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T. , Jones S. , Wood L.D. , Parsons D.W. , Lin J. , Barber T.D. , Mandelker D. , Leary R.J. , Ptak J. , Silliman N. , Szabo S. , Buckhaults P. , Farrell C. , Meeh P. , Markowitz S.D. , Willis J. , Dawson D. , Willson J.K.V. , Gazdar A.F. , Hartigan J. , Wu L. , Liu C. , Parmigiani G. , Park B.H. , Bachman K.E. , Papadopoulos N. , Vogelstein B. , Kinzler K.W. , Velculescu V.E. more...
Science314:268-274(2006) [PubMed] [Europe PMC] [Abstract]