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Journal Abstract Search

281 related items for PubMed ID: 8830175

  • 1. Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families.
    Yoo HW, Kim GH, Lee DH.
    J Inherit Metab Dis; 1996; 19(1):31-42. PubMed ID: 8830175
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  • 4. [Analysis of clinical features, biochemical analysis and gene mutations in one Chinese pedigree with neonatal-onset ornithine transcarbamylase deficiency].
    Sun WH, Yang Y, Zhang YP, Li XT, Zhang M, Cao Y, Wang Y.
    Zhonghua Er Ke Za Zhi; 2011 May; 49(5):356-60. PubMed ID: 21624287
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  • 5. Prenatal molecular evaluation of six fetuses in four unrelated Korean families with ornithine transcarbamylase deficiency.
    Yoo HW, Kim GH.
    J Korean Med Sci; 1998 Apr; 13(2):179-85. PubMed ID: 9610619
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  • 6. Four new mutations in the ornithine transcarbamylase gene.
    Reish O, Plante RJ, Tuchman M.
    Biochem Med Metab Biol; 1993 Oct; 50(2):169-75. PubMed ID: 8260194
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  • 9. Mutations and polymorphisms in the human ornithine transcarbamylase gene.
    Tuchman M.
    Hum Mutat; 1993 Oct; 2(3):174-8. PubMed ID: 8364586
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  • 10. Direct and indirect mutation analyses in patients with ornithine transcarbamylase deficiency.
    Liechti-Gallati S, Dionisi C, Bachmann C, Wermuth B, Colombo JP.
    Enzyme; 1991 Oct; 45(1-2):81-91. PubMed ID: 1806371
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  • 11. 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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  • 12. 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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  • 14. 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; 1991 Dec; 88(2):153-6. PubMed ID: 1721894
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  • 16. 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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  • 17. 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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  • 18. Ornithine transcarbamylase deficiency: characterization of gene mutations and polymorphisms.
    Oppliger Leibundgut EO, Wermuth B, Colombo JP, Liechti-Gallati S.
    Hum Mutat; 1996 Sep 05; 8(4):333-9. PubMed ID: 8956038
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  • 19. Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.
    Choi JH, Lee BH, Kim JH, Kim GH, Kim YM, Cho J, Cheon CK, Ko JM, Lee JH, Yoo HW.
    J Hum Genet; 2015 Sep 05; 60(9):501-7. PubMed ID: 25994866
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  • 20. Single-strand conformational polymorphism and direct sequencing applied to carrier testing in families with ornithine transcarbamylase deficiency.
    Tsai MY, Holzknecht RA, Tuchman M.
    Hum Genet; 1993 May 05; 91(4):321-5. PubMed ID: 8099056
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