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Journal Abstract Search

517 related items for PubMed ID: 16786505

  • 1. 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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  • 3. 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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  • 8. In vitro demonstration of intra-locus compensation using the ornithine transcarbamylase protein as model.
    Suriano G, Azevedo L, Novais M, Boscolo B, Seruca R, Amorim A, Ghibaudi EM.
    Hum Mol Genet; 2007 Sep 15; 16(18):2209-14. PubMed ID: 17613537
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  • 9. 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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  • 10. Mutations and polymorphisms in the human ornithine transcarbamylase gene: mutation update addendum.
    Tuchman M, Plante RJ.
    Hum Mutat; 1995 Sep 05; 5(4):293-5. PubMed ID: 7627182
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  • 11. [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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  • 13. Magnetic resonance spectroscopy and molecular studies in ornithine transcarbamylase deficiency novel mutation c.802A>G in exon 8 (p.Met268Val).
    Jamroz E, Paprocka J, Sokół M, Popowska E, Ciara E.
    Neurol Neurochir Pol; 2013 Feb 05; 47(3):283-9. PubMed ID: 23821427
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  • 14. 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 05; 14(4):352-3. PubMed ID: 10502831
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  • 15. [Molecular diagnosis of OTC gene mutation in a Chinese family with ornithine transcarbamylase deficiency].
    Meng LL, Jiang T, Qin L, Ma DY, Chen YL, Han SP, Yu ZB, Guo XR, Hu P, Xu ZF.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Apr 05; 30(2):195-8. PubMed ID: 23568734
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  • 16. Adult-onset ornithine transcarbamylase (OTC) deficiency unmasked by the Atkins' diet.
    Ben-Ari Z, Dalal A, Morry A, Pitlik S, Zinger P, Cohen J, Fattal I, Galili-Mosberg R, Tessler D, Baruch RG, Nuoffer JM, Largiader CR, Mandel H.
    J Hepatol; 2010 Feb 05; 52(2):292-5. PubMed ID: 20031247
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  • 17. Site specific screening for point mutations in ornithine transcarbamylase deficiency.
    Feldmann D, Rozet JM, Pelet A, Hentzen D, Briand P, Hubert P, Largilliere C, Rabier D, Farriaux JP, Munnich A.
    J Med Genet; 1992 Jul 05; 29(7):471-5. PubMed ID: 1353535
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  • 20. 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 05; 32(5):600-4. PubMed ID: 1480464
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