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Journal Abstract Search

513 related items for PubMed ID: 12899439

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  • 8. Acute intermittent porphyria in Argentina: an update.
    Cerbino GN, Gerez EN, Varela LS, Melito VA, Parera VE, Batlle A, Rossetti MV.
    Biomed Res Int; 2015; 2015():946387. PubMed ID: 26075277
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  • 9. 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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  • 11. Acute intermittent porphyria: characterization of two novel mutations in the porphobilinogen deaminase gene, one amino acid deletion (453-455delAGC) and one splicing aceptor site mutation (IVS8-1G>T).
    De Siervi A, Mendez M, Parera VE, Varela L, Batlle AM, Rossetti MV.
    Hum Mutat; 1999 Oct; 14(4):355. PubMed ID: 10502788
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  • 13. Pathogenesis and clinical features of the acute hepatic porphyrias (AHPs).
    Bonkovsky HL, Dixon N, Rudnick S.
    Mol Genet Metab; 2019 Nov; 128(3):213-218. PubMed ID: 30987916
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  • 15. Recurrent missense mutation in the protoporphyrinogen oxidase gene underlies variegate porphyria.
    Frank J, Jugert FK, Breitkopf C, Goerz G, Merk HF, Christiano AM.
    Am J Med Genet; 1998 Aug 27; 79(1):22-6. PubMed ID: 9738863
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  • 20. 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 27; 276(7):2106-15. PubMed ID: 19292878
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