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Journal Abstract Search

213 related items for PubMed ID: 9427144

  • 1. Missense mutations in codon 225 of ornithine transcarbamylase (OTC) result in decreased amounts of OTC protein: a hypothesis on the molecular mechanism of the OTC deficiency.
    García-Pérez MA, Climent C, Briones P, Vilaseca MA, Rodés M, Rubio V.
    J Inherit Metab Dis; 1997 Nov; 20(6):769-77. PubMed ID: 9427144
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  • 2. Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families.
    Yoo HW, Kim GH, Lee DH.
    J Inherit Metab Dis; 1996 Nov; 19(1):31-42. PubMed ID: 8830175
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  • 6. Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene.
    Bisanzi S, Morrone A, Donati MA, Pasquini E, Spada M, Strisciuglio P, Parenti G, Parini R, Papadia F, Zammarchi E.
    Mol Genet Metab; 2002 Jun; 76(2):137-44. PubMed ID: 12083811
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  • 7. The ornithine transcarbamylase (OTC) gene: mutations in 50 Japanese families with OTC deficiency.
    Matsuda I, Tanase S.
    Am J Med Genet; 1997 Sep 05; 71(4):378-83. PubMed ID: 9286441
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  • 9. Mutations and polymorphisms in the human ornithine transcarbamylase gene.
    Tuchman M.
    Hum Mutat; 1993 Sep 05; 2(3):174-8. PubMed ID: 8364586
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  • 10. 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; 2002 Feb 05; 19(2):185-6. PubMed ID: 11793483
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  • 11. A novel point mutation at codon 269 of the ornithine transcarbamylase (OTC) gene causing neonatal onset of OTC deficiency.
    Zimmer KP, Matsuura T, Colombo JP, Koch HG, Ullrich K, Deufel T, Harms E, Matsuda I.
    J Inherit Metab Dis; 1995 Feb 05; 18(3):356-7. PubMed ID: 7474905
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  • 12. Late-onset ornithine transcarbamylase deficiency in two families with different mutations in the same codon.
    Ploechl E, Ploechl W, Stoeckler-Ipsiroglu S, Pokorny H, Wermuth B.
    Clin Genet; 2001 Feb 05; 59(2):111-4. PubMed ID: 11260212
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  • 13. Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiency.
    Carstens RP, Fenton WA, Rosenberg LR.
    Am J Hum Genet; 1991 Jun 05; 48(6):1105-14. PubMed ID: 2035531
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  • 16. Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.
    Maddalena A, Spence JE, O'Brien WE, Nussbaum RL.
    J Clin Invest; 1988 Oct 05; 82(4):1353-8. PubMed ID: 3170748
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  • 17. [Analysis of ornithine transcarbamylase gene mutations in three boys affected with late-onset ornithine transcarbamylase deficiency].
    Chen Z, Wen P, Wang G, Liu X, Chen L, Chen S, Wan L, Cui D, Shang Y, Li C.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Oct 05; 31(5):565-9. PubMed ID: 25297582
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  • 19. Screening for gene deletions and known mutations in 13 patients with ornithine transcarbamylase deficiency.
    Suess PJ, Tsai MY, Holzknecht RA, Horowitz M, Tuchman M.
    Biochem Med Metab Biol; 1992 Jun 05; 47(3):250-9. PubMed ID: 1627356
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