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Journal Abstract Search

238 related items for PubMed ID: 1511981

  • 1. Ornithine transcarbamylase (OTC) deficiency in a female patient with a de nova deletion of the paternal X chromosome.
    Slomski R, Braulke I, Behrend C, Schröder E, Colombo JP, Reiss J.
    Hum Genet; 1992 Aug; 89(6):632-4. PubMed ID: 1511981
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  • 5. Apparent segregation of null alleles ascribed to deletions of the ornithine transcarbamylase gene in congenital hyperammonaemia.
    Segues B, Rozet JM, Gilbert B, Saugier-Veber P, Rabier D, Saudubray JM, Carré M, Rouleau FP, Menget A, Bonardi JM.
    Prenat Diagn; 1995 Aug; 15(8):757-61. PubMed ID: 7479595
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  • 6. [Genetic counseling in ornithine carbamoyltransferase deficiency].
    Pelet A, Toumas E, Rabier D, Kaplan J, Kamoun P, Frezal J, Saudubray JM, Munnich A.
    Ann Biol Clin (Paris); 1988 Aug; 46(7):455-9. PubMed ID: 2903704
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  • 7. [Ornithine transcarbamylase deficiency].
    Hata A.
    Tanpakushitsu Kakusan Koso; 1988 Apr; 33(5):500-4. PubMed ID: 2908395
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  • 8. A novel missense mutation in the exon containing the putative ornithine-binding domain of the OTC enzyme in a female.
    Demmer LA, Kim JM, de Martinville B, Dowton SB.
    Hum Mutat; 1996 Apr; 7(3):279. PubMed ID: 8829665
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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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  • 12. Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency.
    Matsuura T, Hoshide R, Kiwaki K, Komaki S, Koike E, Endo F, Oyanagi K, Suzuki Y, Kato I, Ishikawa K.
    Hum Mutat; 1994 Jul; 3(4):402-6. PubMed ID: 8081398
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  • 13. Seven new mutations in the human ornithine transcarbamylase gene.
    Tuchman M, Plante RJ, McCann MT, Qureshi AA.
    Hum Mutat; 1994 Jul; 4(1):57-60. PubMed ID: 7951259
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  • 15. Molecular basis of ornithine transcarbamylase deficiency in spf and spf-ash mutant mice.
    Ohtake A, Takayanagi M, Yamamoto S, Kakinuma H, Nakajima H, Tatibana M, Mori M.
    J Inherit Metab Dis; 1986 Jul; 9(3):289-91. PubMed ID: 3099076
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