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Index > Protein center > OTC(Gene name) > Human
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  • OTC (Gene name),
  • Ornithine carbamoyltransferase, mitochondrial (Protein name ),  OTC_HUMAN from NCBI database.
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  • General Annotation
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  • Antigen Annotation
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  • 3D
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  • Predicted Eptitope
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  • Vaild Sequence
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  • Gene name:
    OTC;
    Protein name:
    Ornithine carbamoyltransferase, mitochondrial;
    Alternative:
    Ornithine transcarbamylase(OTCase);
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    Homotrimer.
    Function:
    Subcellular Location:
    Mitochondrion matrix
    Protein Attributes:
    Sequence length:
    354
    Sequence:
    50:
    MLFNLRILLN | NAAFRNGHNF | MVRNFRCGQP | LQNKVQLKGR | DLLTLKNFTG | 
    100:
    EEIKYMLWLS | ADLKFRIKQK | GEYLPLLQGK | SLGMIFEKRS | TRTRLSTETG | 
    150:
    FALLGGHPCF | LTTQDIHLGV | NESLTDTARV | LSSMADAVLA | RVYKQSDLDT | 
    200:
    LAKEASIPII | NGLSDLYHPI | QILADYLTLQ | EHYSSLKGLT | LSWIGDGNNI | 
    250:
    LHSIMMSAAK | FGMHLQAATP | KGYEPDASVT | KLAEQYAKEN | GTKLLLTNDP | 
    300:
    LEAAHGGNVL | ITDTWISMGQ | EEEKKKRLQA | FQGYQVTMKT | AKVAASDWTF | 
    350:
    LHCLPRKPEE | VDDEVFYSPR | SLVFPEAENR | KWTIMAVMVS | LLTDYSPQLQ | 
    354:
    KPKF
    3D Structure:
    N/A
    Predicted Eptitope:
    Please Sign in.
    EIAab Sequence  Vaild Sequence:
    Please Sign in.
    Related Databases
    String:
    SMR:
    UniGene:
    KEGG:
    MIM:
    Pfam:
    Uniprot:
     
    FOR
    ELISA Kit for Human Ornithine carbamoyltransferase, mitochondrial
    Cat.:
    E1492h
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    96T
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    ELISA Kit for Human Ornithine carbamoyltransferase, mitochondrial
    Cat.:
    E1492r
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    MSDS:
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    Packing:
    96T
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    ELISA Kit for Human Ornithine carbamoyltransferase, mitochondrial
    Cat.:
    E1492m
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    Packing:
    96T
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    ELISA Kit for Human Ornithine carbamoyltransferase, mitochondrial
    Cat.:
    E1492p
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    Packing:
    96T
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    ELISA Kit for Human Ornithine carbamoyltransferase, mitochondrial
    Cat.:
    E1492c
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    MSDS:
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    Packing:
    96T
    ELISA Kit for Human Ornithine carbamoyltransferase, mitochondrial
    Cat.:
    E1492b
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    MSDS:
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    Packing:
    96T
    CLIA Kit for Human Ornithine carbamoyltransferase, mitochondrial
    Cat.:
    U1492r
    Price:
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    MSDS:
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    Packing:
    96T
    Range:
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    CLIA Kit for Human Ornithine carbamoyltransferase, mitochondrial
    Cat.:
    U1492h
    Price:
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    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
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    CLIA Kit for Human Ornithine carbamoyltransferase, mitochondrial
    Cat.:
    U1492p
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human Ornithine carbamoyltransferase, mitochondrial
    Cat.:
    U1492m
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human Ornithine carbamoyltransferase, mitochondrial
    Cat.:
    U1492c
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human Ornithine carbamoyltransferase, mitochondrial
    Cat.:
    U1492b
    Price:
    Please sign in first.
    MSDS:
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    Packing:
    96T
    Polyclonal Antibody for Human Ornithine carbamoyltransferase, mitochondrial
    Cat.:
    P1492Rb-m
    Price:
    Please sign in first.
    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human Ornithine carbamoyltransferase, mitochondrial
    Cat.:
    P1492Rb-r
    Price:
    Please sign in first.
    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human Ornithine carbamoyltransferase, mitochondrial
    Cat.:
    P1492Rb-h
    Price:
    Please sign in first.
    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human Ornithine carbamoyltransferase, mitochondrial
    Polyclonal Antibody for Human Ornithine carbamoyltransferase, mitochondrial
    Polyclonal Antibody for Human Ornithine carbamoyltransferase, mitochondrial
    Monoclonal Antibody for Human Ornithine carbamoyltransferase, mitochondrial
    Monoclonal Antibody for Human Ornithine carbamoyltransferase, mitochondrial
    Monoclonal Antibody for Human Ornithine carbamoyltransferase, mitochondrial
    Monoclonal Antibody for Human Ornithine carbamoyltransferase, mitochondrial
    Monoclonal Antibody for Human Ornithine carbamoyltransferase, mitochondrial
    Monoclonal Antibody for Human Ornithine carbamoyltransferase, mitochondrial
    Protein for Human Ornithine carbamoyltransferase, mitochondrial
    Protein for Human Ornithine carbamoyltransferase, mitochondrial
    Protein for Human Ornithine carbamoyltransferase, mitochondrial
    Protein for Human Ornithine carbamoyltransferase, mitochondrial
    Protein for Human Ornithine carbamoyltransferase, mitochondrial
    Protein for Human Ornithine carbamoyltransferase, mitochondrial

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    Precision
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    Recovery
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    Linearity
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    References
    1. 1.
      "Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase."
      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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA];VARIANTS PRO-111 AND ARG-270
      tissue: Liver.
    2. 2.
      "Structure of the human ornithine transcarbamylase gene."
      Hata A. , Tsuzuki T. , Shimada K. , Takiguchi M. , Mori M. , Matsuda I.
      J. Biochem.103:302-308(1988) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA];VARIANT LEU-101
      tissue: Liver.
    3. 3.
      "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      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. , more...
      Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
      tissue: Liver.
    4. 4.
      "The DNA sequence of the human X chromosome."
      Ross M.T. , Grafham D.V. , Coffey A.J. , Scherer S. , McLay K. , Muzny D. , Platzer M. , Howell G.R. , Burrows C. , Bird C.P. , Frankish A. , Lovell F.L. , Howe K.L. , Ashurst J.L. , Fulton R.S. , Sudbrak R. , Wen G. , Jones M.C. , more...
      Nature434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
    5. 5.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
    6. 6.
      "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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA];VARIANT ARG-46
      tissue: Brain.
    7. 7.
      "Arginine in the leader peptide is required for both import and proteolytic cleavage of a mitochondrial precursor."
      Horwich A.L. , Kalousek F. , Rosenberg L.E.
      Proc. Natl. Acad. Sci. U.S.A.82:4930-4933(1985) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-36
    8. 8.
      "Isolation and characterization of the human ornithine transcarbamylase gene: structure of the 5'-end region."
      Hata A. , Tsuzuki T. , Shimada K. , Takiguchi M. , Mori M. , Matsuda I.
      J. Biochem.100:717-725(1986) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-26
    9. 9.
      "A novel arginine (245) to glutamine change in exon 8 of the ornithine carbamoyl transferase gene in two unrelated children presenting with late onset deficiency and showing the same enzymatic pattern."
      Gilbert-Dussardier B. , Rabier D. , Strautnieks S. , Segues B. , Bonnefont J.-P. , Munnich A.
      Hum. Mol. Genet.3:831-832(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 269-289;VARIANT OTCD GLN-277
    10. 10.
      "Lysine 88 acetylation negatively regulates ornithine carbamoyltransferase activity in response to nutrient signals."
      Yu W. , Lin Y. , Yao J. , Huang W. , Lei Q. , Xiong Y. , Zhao S. , Guan K.L.
      J. Biol. Chem.284:13669-13675(2009) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ACETYLATION AT LYS-88;ENZYME REGULATION
    11. 11.
      "1.85-A resolution crystal structure of human ornithine transcarbamoylase complexed with N-phosphonacetyl-L-ornithine. Catalytic mechanism and correlation with inherited deficiency."
      Shi D. , Morizono H. , Ha Y. , Aoyagi M. , Tuchman M. , Allewell N.M.
      J. Biol. Chem.273:34247-34254(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (1.85 ANGSTROMS) IN COMPLEX WITH SUBSTRATE ANALOG
    12. 12.
      "Crystal structure of human ornithine transcarbamylase complexed with carbamoyl phosphate and L-norvaline at 1.9 A resolution."
      Shi D. , Morizono H. , Aoyagi M. , Tuchman M. , Allewell N.M.
      Proteins39:271-277(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (1.9 ANGSTROMS) IN COMPLEX WITH SUBSTRATE
    13. 13.
      "Mutations and polymorphisms in the human ornithine transcarbamylase gene."
      Tuchman M.
      Hum. Mutat.2:174-178(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON VARIANTS
    14. 14.
      "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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON VARIANTS
    15. 15.
      "The molecular basis of ornithine transcarbamylase deficiency: modelling the human enzyme and the effects of mutations."
      Tuchman M. , Morizono H. , Reish O. , Yuan X. , Allewell N.M.
      J. Med. Genet.32:680-688(1995) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON VARIANTS;3D-STRUCTURE MODELING
    16. 16.
      "Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency."
      Maddalena A. , Spence J.E. , O'Brien W.E. , Nussbaum R.L.
      J. Clin. Invest.82:1353-1358(1988) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OTCD GLN-141
    17. 17.
      "Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage."
      Grompe M. , Muzny D.M. , Caskey C.T.
      Proc. Natl. Acad. Sci. U.S.A.86:5888-5892(1989) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OTCD GLN-26; PRO-45 AND GLU-216;VARIANT ARG-46
    18. 18.
      "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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OTCD TRP-277
    19. 19.
      "Improved molecular diagnostics for ornithine transcarbamylase deficiency."
      Grompe M. , Caskey C.T. , Fenwick R.G. Jr.
      Am. J. Hum. Genet.48:212-222(1991) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OTCD GLN-92 AND LEU-320;VARIANT PRO-111
    20. 20.
      "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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OTCD LEU-225
    21. 21.
      "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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OTCD GLU-79; THR-94; PHE-304 AND ASP-345
    22. 22.
      "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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OTCD PRO-140
    23. 23.
      "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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OTCD LEU-117; LEU-182 AND CYS-203
    24. 24.
      "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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OTCD GLY-126; HIS-129 AND MET-172
    25. 25.
      "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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OTCD HIS-40; HIS-129; ARG-195; THR-225; GLN-277 AND GLU-309 DEL
    26. 26.
      "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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OTCD THR-159 AND VAL-209
    27. 27.
      "A novel point mutation at codon 269 of the ornithine transcarbamylase (OTC) gene causing neonatal onset of OTC deficiency."
      Zimmer K.P. , Matsuura T. , Colombo J.-P. , Koch H.G. , Ullrich K. , Deufel T. , Harms E. , Matsuda I.
      J. Inherit. Metab. Dis.18:356-357(1995) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OTCD GLU-269
    28. 28.
      "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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OTCD MET-125; ARG-188; VAL-209 AND LEU-302
    29. 29.
      "Genotype-phenotype correlations in ornithine transcarbamylase deficiency."
      Guardamagna O. , Gatti E. , Parini R. , Plante R.J. , Tuchman M.
      Enzyme Protein49:191-191(1996)
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OTCD HIS-40; ASN-88; TYR-202 AND ASN-263
    30. 30.
      "Ornithine transcarbamylase deficiency: characterization of gene mutations and polymorphisms."
      Leibundgut E.O. , Wermuth B. , Colombo J.-P. , Liechti-Gallati S.
      Hum. Mutat.8:333-339(1996) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OTCD ASN-88; CYS-176; ALA-220; TYR-302 AND LYS-343
    31. 31.
      "A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma."
      Segues B. , Saugier Veber P. , Rabier D. , Calvas P. , Saudubray J.-M. , Gilbert-Dussardier B. , Bonnefont J.-P. , Munnich A.
      Hum. Mutat.8:373-374(1996) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OTCD GLU-272 DEL
    32. 32.
      "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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OTCD ILE-44; GLN-141 AND TYR-214;VARIANT LEU-101
    33. 33.
      "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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OTCD
    34. 34.
      "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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: CHARACTERIZATION OF VARIANT OTCD TRP-277
    35. 35.
      "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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OTCD PRO-63; ASP-100; ASP-183; LYS-213 AND PRO-340;VARIANT PHE-43
    36. 36.
      "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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OTCD
    37. 37.
      "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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OTCD 178-THE-LEU-179 DEL; HIS-180; PRO-201; ARG-207; ILE-264 AND ARG-267
    38. 38.
      "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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OTCD CYS-39; GLN-244 AND ARG-303
    39. 39.
      "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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OTCD ASP-55
    40. 40.
      "A novel missense mutation in the human ornithine transcarbamylase gene."
      Bartholomew D.W. , McClellan J.
      Hum. Mutat.12:220-220(1998)
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OTCD ASP-83
    41. 41.
      "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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OTCD PHE-172; VAL-188 AND ARG-197
    42. 42.
      "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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OTCD LYS-198; VAL-209 AND LYS-326;VARIANT ARG-270
    43. 43.
      "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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OTCD LYS-262; ALA-264 AND LEU-265
    44. 44.
      "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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OTCD SER-160; PHE-191; ILE-206; PHE-301; HIS-305 AND PRO-341;VARIANT ALA-333
    45. 45.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT [LARGE SCALE ANALYSIS] ARG-270
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