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Journal Abstract Search

245 related items for PubMed ID: 1721894

  • 1. 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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  • 2. 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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  • 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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  • 6. Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families.
    Yoo HW, Kim GH, Lee DH.
    J Inherit Metab Dis; 1996 May; 19(1):31-42. PubMed ID: 8830175
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  • 10. New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency.
    Nussbaum RL, Boggs BA, Beaudet AL, Doyle S, Potter JL, O'Brien WE.
    Am J Hum Genet; 1986 Feb; 38(2):149-58. PubMed ID: 3004207
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  • 11. 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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