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Journal Abstract Search

232 related items for PubMed ID: 11013452

  • 1. Identification and characterization of two novel mutations that produce acute intermittent porphyria: A 3-base deletion (841-843delGGA) and a missense mutation (T35M).
    De Siervi A, Weiss Cádiz DE, Parera VE, del C Batlle AM, Rossetti MV.
    Hum Mutat; 2000 Oct; 16(4):373. PubMed ID: 11013452
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  • 4. 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; 276(7):2106-15. PubMed ID: 19292878
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  • 6. Molecular study of the hydroxymethylbilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria.
    Gregor A, Schneider-Yin X, Szlendak U, Wettstein A, Lipniacka A, Rüfenacht UB, Minder EI.
    Hum Mutat; 2002 Mar; 19(3):310. PubMed ID: 11857754
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  • 9. A point mutation, C to T, in exon 8 of the porphobilinogen deaminase gene in a Japanese family with acute intermittent porphyria.
    Morita Y, Daimon M, Kashiwaba M, Yamatani K, Igarashi M, Fukase N, Ohnuma H, Ikezawa Y, Sugiyama K, Manaka H.
    Jpn J Hum Genet; 1995 Jun; 40(2):207-13. PubMed ID: 7663002
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  • 11. A novel mutation in a family with non-erythroid variant form of acute intermittent porphyria.
    Yu S, Poulos V, Stewart P.
    J Hum Genet; 2000 Jun; 45(6):367-9. PubMed ID: 11185747
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  • 12. Porphobilinogen deaminase gene mutations in Polish patients with non-erythroid acute intermittent porphyria.
    Szlendak U, Lipniacka A, Bianketti J, Podolak-Dawidziak M, Bykowska K.
    Adv Clin Exp Med; 2015 Jun; 24(1):63-8. PubMed ID: 25923088
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  • 15. Molecular analysis of the hydroxymethylbilane synthase (HMBS) gene in Italian patients with acute intermittent porphyria: report of four novel mutations.
    Martinez di Montemuros F, Di Pierro E, Fargion S, Biolcati G, Griso D, Macrì A, Fiorelli G, Cappellini MD.
    Hum Mutat; 2000 May; 15(5):480. PubMed ID: 10790212
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