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Journal Abstract Search

191 related items for PubMed ID: 2741942

  • 1. Ornithine transcarbamylase deficiency resulting from a C-to-T substitution in exon 5 of the ornithine transcarbamylase gene.
    Hata A, Setoyama C, Shimada K, Takeda E, Kuroda Y, Akaboshi I, Matsuda I.
    Am J Hum Genet; 1989 Jul; 45(1):123-7. PubMed ID: 2741942
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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 Jul; 19(1):31-42. PubMed ID: 8830175
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  • 3. 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; 87(1):28-32. PubMed ID: 2037279
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  • 4. 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; 82(4):1353-8. PubMed ID: 3170748
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  • 5. Improved molecular diagnostics for ornithine transcarbamylase deficiency.
    Grompe M, Caskey CT, Fenwick RG.
    Am J Hum Genet; 1991 Feb; 48(2):212-22. PubMed ID: 1671317
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  • 6. 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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  • 7. 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; 47(3):250-9. PubMed ID: 1627356
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  • 15. Demonstration of the spf-ash mutation in Spanish patients with ornithine transcarbamylase deficiency of moderate severity.
    García-Pérez MA, Sanjurjo P, Rubio V.
    Hum Genet; 1995 Feb; 95(2):183-6. PubMed ID: 7860064
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  • 16. The spfash mouse: a missense mutation in the ornithine transcarbamylase gene also causes aberrant mRNA splicing.
    Hodges PE, Rosenberg LE.
    Proc Natl Acad Sci U S A; 1989 Jun; 86(11):4142-6. PubMed ID: 2471197
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  • 17. Direct and indirect mutation analyses in patients with ornithine transcarbamylase deficiency.
    Liechti-Gallati S, Dionisi C, Bachmann C, Wermuth B, Colombo JP.
    Enzyme; 1991 Jun; 45(1-2):81-91. PubMed ID: 1806371
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  • 18. 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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  • 19. Use of denaturing gradient gel electrophoresis for detection of mutation and prospective diagnosis in late onset ornithine transcarbamylase deficiency.
    Finkelstein JE, Francomano CA, Brusilow SW, Traystman MD.
    Genomics; 1990 Jun; 7(2):167-72. PubMed ID: 2347583
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