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Journal Abstract Search

145 related items for PubMed ID: 1350265

  • 1. The human fumarylacetoacetase gene: characterisation of restriction fragment length polymorphisms and identification of haplotypes in tyrosinemia type 1 and pseudodeficiency.
    Rootwelt H, Kvittingen EA, Høie K, Agsteribbe E, Hartog M, van Faassen H, Berger R.
    Hum Genet; 1992 May; 89(2):229-33. PubMed ID: 1350265
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  • 2. Hereditary tyrosinemia type I: strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis.
    Demers SI, Phaneuf D, Tanguay RM.
    Am J Hum Genet; 1994 Aug; 55(2):327-33. PubMed ID: 7913582
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  • 3. Deficiency of fumarylacetoacetase without hereditary tyrosinemia.
    Kvittingen EA, Børresen AL, Stokke O, van der Hagen CB, Lie SO.
    Clin Genet; 1985 Jun; 27(6):550-4. PubMed ID: 4017276
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  • 4. The human tyrosine aminotransferase gene: characterization of restriction fragment length polymorphisms and haplotype analysis in a family with tyrosinemia type II.
    Westphal EM, Natt E, Grimm T, Odievre M, Scherer G.
    Hum Genet; 1988 Jul; 79(3):260-4. PubMed ID: 2456982
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  • 5. Hereditary tyrosinemia type I: lack of correlation between clinical findings and amount of immunoreactive fumarylacetoacetase protein.
    Kvittingen EA, Rootwelt H, van Dam T, van Faassen H, Berger R.
    Pediatr Res; 1992 Jan; 31(1):43-6. PubMed ID: 1594329
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  • 7. Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase.
    Rootwelt H, Chou J, Gahl WA, Berger R, Coşkun T, Brodtkorb E, Kvittingen EA.
    Hum Genet; 1994 Jun; 93(6):615-9. PubMed ID: 8005583
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  • 9. Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I.
    St-Louis M, Leclerc B, Laine J, Salo MK, Holmberg C, Tanguay RM.
    Hum Mol Genet; 1994 Jan; 3(1):69-72. PubMed ID: 8162054
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  • 11. Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I).
    Tanguay RM, Valet JP, Lescault A, Duband JL, Laberge C, Lettre F, Plante M.
    Am J Hum Genet; 1990 Aug; 47(2):308-16. PubMed ID: 2378356
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  • 13. Hereditary tyrosinemia type I--an overview.
    Kvittingen EA.
    Scand J Clin Lab Invest Suppl; 1986 Aug; 184():27-34. PubMed ID: 3296130
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  • 14. Self-induced correction of the genetic defect in tyrosinemia type I.
    Kvittingen EA, Rootwelt H, Berger R, Brandtzaeg P.
    J Clin Invest; 1994 Oct; 94(4):1657-61. PubMed ID: 7929843
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  • 15. Deficiency of fumarylacetoacetase in a patient with hereditary tyrosinemia.
    Berger R, Smit GP, Stoker-de Vries SA, Duran M, Ketting D, Wadman SK.
    Clin Chim Acta; 1981 Jul 18; 114(1):37-44. PubMed ID: 7249373
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  • 16. Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity.
    Labelle Y, Phaneuf D, Leclerc B, Tanguay RM.
    Hum Mol Genet; 1993 Jul 18; 2(7):941-6. PubMed ID: 8364576
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  • 19. Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient.
    Phaneuf D, Lambert M, Laframboise R, Mitchell G, Lettre F, Tanguay RM.
    J Clin Invest; 1992 Oct 18; 90(4):1185-92. PubMed ID: 1401056
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