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Journal Abstract Search

246 related items for PubMed ID: 12402347

  • 1. H intragenic polymorphisms and haplotype analysis in the ornithine transcarbamylase (OTC) gene and their relevance for tracking the inheritance of OTC deficiency.
    Climent C, Rubio V.
    Hum Mutat; 2002 Nov; 20(5):407-8. PubMed ID: 12402347
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.
    Yamaguchi S, Brailey LL, Morizono H, Bale AE, Tuchman M.
    Hum Mutat; 2006 Jul; 27(7):626-32. PubMed ID: 16786505
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  • 4. Mutations and polymorphisms in the human ornithine transcarbamylase gene.
    Tuchman M, Jaleel N, Morizono H, Sheehy L, Lynch MG.
    Hum Mutat; 2002 Feb; 19(2):93-107. PubMed ID: 11793468
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  • 5. 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 Feb; 53(5):229-40. PubMed ID: 18204299
    [Abstract] [Full Text] [Related]

  • 6. Mutations and polymorphisms in the human ornithine transcarbamylase gene.
    Tuchman M.
    Hum Mutat; 1993 Feb; 2(3):174-8. PubMed ID: 8364586
    [Abstract] [Full Text] [Related]

  • 7. Polymorphisms in the human ornithine transcarbamylase gene useful for allele tracking. Mutations in brief no. 193. Online.
    Plante RJ, Tuchman M.
    Hum Mutat; 1998 Feb; 12(4):289-90. PubMed ID: 10660345
    [Abstract] [Full Text] [Related]

  • 8. Mutational spectrum and linkage disequilibrium patterns at the ornithine transcarbamylase gene (OTC).
    Azevedo L, Soares PA, Quental R, Vilarinho L, Teles EL, Martins E, Diogo L, Garcia P, Cenni B, Wermuth B, Amorim A.
    Ann Hum Genet; 2006 Nov; 70(Pt 6):797-801. PubMed ID: 17044854
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  • 11. 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, García-Pérez MA, Sanjurjo P, Ruiz-Sanz JI, Vilaseca MA, Pineda M, Campistol J, Rubio V.
    Hum Mutat; 1999 Oct; 14(4):352-3. PubMed ID: 10502831
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  • 12. Streamlined assessment of gene variants by high resolution melt profiling utilizing the ornithine transcarbamylase gene as a model system.
    Dobrowolski SF, Ellingson CE, Caldovic L, Tuchman M.
    Hum Mutat; 2007 Nov; 28(11):1133-40. PubMed ID: 17565723
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  • 13. 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 MA, Ciani F, Bardelli T, Biasucci G, Zammarchi E.
    Hum Mutat; 2000 Apr; 15(4):380-1. PubMed ID: 10737985
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  • 14. 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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  • 16. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 05; 56(3):105-52. PubMed ID: 19728970
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  • 17. [Molecular characterization of a new mutation E122G of human ornithine transcarbamylase gene].
    Gao H, Li W, Yan ZH, Jiang MH, Rui DR, He YS.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Feb 05; 20(1):19-22. PubMed ID: 12579493
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  • 18. A novel two-nucleotide deletion in the ornithine transcarbamylase gene causing fatal hyperammonia in early pregnancy.
    Schimanski U, Krieger D, Horn M, Stremmel W, Wermuth B, Theilmann L.
    Hepatology; 1996 Dec 05; 24(6):1413-5. PubMed ID: 8938172
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  • 19. High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH.
    Shchelochkov OA, Li FY, Geraghty MT, Gallagher RC, Van Hove JL, Lichter-Konecki U, Fernhoff PM, Copeland S, Reimschisel T, Cederbaum S, Lee B, Chinault AC, Wong LJ.
    Mol Genet Metab; 2009 Mar 05; 96(3):97-105. PubMed ID: 19138872
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