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Journal Abstract Search

119 related items for PubMed ID: 9452049

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  • 2. Y55D mutation in ornithine transcarbamylase associated with late-onset hyperammonemia in a male.
    Nishiyori A, Yoshino M, Tananari Y, Matsuura T, Hoshide R, Mastuda I, Mori M, Kato H.
    Hum Mutat; 1998; Suppl 1():S131-3. PubMed ID: 9452065
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  • 4. 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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  • 7. 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; 24(6):1413-5. PubMed ID: 8938172
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  • 8. Seven new mutations in the human ornithine transcarbamylase gene.
    Tuchman M, Plante RJ, McCann MT, Qureshi AA.
    Hum Mutat; 1994 Dec; 4(1):57-60. PubMed ID: 7951259
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  • 9. Sporadic late onset ornithine transcarbamylase deficiency in a boy with somatic mosaicism for an intragenic deletion.
    Legius E, Baten E, Stul M, Marynen P, Cassiman JJ.
    Clin Genet; 1990 Aug; 38(2):155-9. PubMed ID: 2208768
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  • 13. 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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  • 19. Screening for gene deletions and known mutations in 13 patients with ornithine transcarbamylase deficiency.
    Suess PJ, Tsai MY, Holzknecht RA, Horowitz M, Tuchman M.
    Biochem Med Metab Biol; 1992 Jun; 47(3):250-9. PubMed ID: 1627356
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