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252 related items for PubMed ID: 25703257

  • 1. Hydroxymethylbilane synthase gene mutations and polymorphisms in Brazilian families with acute intermittent porphyria.
    Gonzaga AD, de Amorim LM, Fonseca AB, Nogueira TL, Pereira OM, Nagai MA, de Oliveira Barretto OC, Ribeiro GS.
    Ann Hum Genet; 2015 May; 79(3):162-72. PubMed ID: 25703257
    [Abstract] [Full Text] [Related]

  • 2. Two deletion mutations in the hydroxymethylbilane synthase gene in two unrelated Japanese patients with acute intermittent porphyria.
    Maeda N, Horie Y, Adachi K, Nanba E, Kawasaki H, Daimon M, Kudo Y, Kondo M.
    J Hum Genet; 2000 May; 45(4):263-8. PubMed ID: 10944860
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  • 3. Porphobilmogen deaminase gene mutations in Brazilian acute intermittent porphyria patients.
    Ribeiro GS, Marchiori PE, Kuntz Puglia PM, Nagai MA, Dos Santos ML, Nonoyama K, Hirata MH, Barretto OC.
    J Clin Lab Anal; 2002 May; 16(5):259-65. PubMed ID: 12357456
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  • 5. Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria.
    Ulbrichova D, Schneider-Yin X, Mamet R, Saudek V, Martasek P, Minder EI, Schoenfeld N.
    Blood Cells Mol Dis; 2009 May; 42(2):167-73. PubMed ID: 19138865
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  • 6. Mutation in the exon 10 (R173W) of the hydroxymethylbilane synthase gene in two unrelated Japanese families with acute intermittent porphyria.
    Tomie Y, Horie Y, Tajima F, Kitaoka S, Nanba E, Yuasa I, Kawasaki H.
    Res Commun Mol Pathol Pharmacol; 1998 Jan; 99(1):5-15. PubMed ID: 9523350
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  • 10. HMBS gene mutations and hydroxymethylbilane synthase activity in acute intermittent porphyria: A systematic review.
    Li S, Lei JJ, Dong BX, Ren Y, Yang J.
    Medicine (Baltimore); 2023 Sep 29; 102(39):e35144. PubMed ID: 37773850
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  • 18. Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties.
    Ulbrichova D, Hrdinka M, Saudek V, Martasek P.
    FEBS J; 2009 Apr 29; 276(7):2106-15. PubMed ID: 19292878
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