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Journal Abstract Search

193 related items for PubMed ID: 3170748

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  • 2. An arginine to glutamine mutation in residue 109 of human ornithine transcarbamylase completely abolishes enzymatic activity in Cos1 cells.
    Lee JT, Nussbaum RL.
    J Clin Invest; 1989 Dec; 84(6):1762-6. PubMed ID: 2556444
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  • 3. Mutation analysis of the ornithine transcarbamylase (OTC) gene in five Japanese OTC deficiency patients revealed two known and three novel mutations including a deep intronic mutation.
    Ogino W, Takeshima Y, Nishiyama A, Okizuka Y, Yagi M, Tsuneishi S, Saiki K, Kugo M, Matsuo M.
    Kobe J Med Sci; 2007 Dec; 53(5):229-40. PubMed ID: 18204299
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  • 5. 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; 19(2):185-6. PubMed ID: 11793483
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  • 7. Six new mutations in the ornithine transcarbamylase gene detected by single-strand conformational polymorphism.
    Tuchman M, Holzknecht RA, Gueron AB, Berry SA, Tsai MY.
    Pediatr Res; 1992 Nov; 32(5):600-4. PubMed ID: 1480464
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  • 10. 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.
    Hum Mutat; 1994 Nov; 3(4):402-6. PubMed ID: 8081398
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  • 11. 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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  • 15. Prenatal monitoring in a family at high risk for ornithine transcarbamylase (OTC) deficiency: a new mutation of an A-to-C transversion in position +4 of intron 1 of the OTC gene that is likely to abolish enzyme activity.
    Hoshide R, Matsuura T, Sagara Y, Kubo T, Shimadzu M, Endo F, Matsuda I.
    Am J Med Genet; 1996 Aug 23; 64(3):459-64. PubMed ID: 8862622
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  • 16. A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency.
    Hata A, Matsuura T, Setoyama C, Shimada K, Yokoi T, Akaboshi I, Matsuda I.
    Hum Genet; 1991 May 23; 87(1):28-32. PubMed ID: 2037279
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  • 20. Seven new mutations in the human ornithine transcarbamylase gene.
    Tuchman M, Plante RJ, McCann MT, Qureshi AA.
    Hum Mutat; 1994 May 23; 4(1):57-60. PubMed ID: 7951259
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