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Journal Abstract Search

191 related items for PubMed ID: 1480464

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  • 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
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  • 4. 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; 91(4):321-5. PubMed ID: 8099056
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  • 5. Seven new mutations in the human ornithine transcarbamylase gene.
    Tuchman M, Plante RJ, McCann MT, Qureshi AA.
    Hum Mutat; 1994 May; 4(1):57-60. PubMed ID: 7951259
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  • 8. 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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  • 9. [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; 20(1):19-22. PubMed ID: 12579493
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  • 10. 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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  • 11. 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; 29(7):471-5. PubMed ID: 1353535
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  • 18. 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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