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1256 related items for PubMed ID: 12699245

  • 1. Molecular characterization of porphyrias in Italy: a diagnostic flow-chart.
    Martinez di Montemuros F, Di Pierro E, Patti E, Tavazzi D, Danielli MG, Biolcati G, Rocchi E, Cappellini MD.
    Cell Mol Biol (Noisy-le-grand); 2002 Dec; 48(8):867-76. PubMed ID: 12699245
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  • 2. Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.
    Gouya L, Puy H, Robreau AM, Lyoumi S, Lamoril J, Da Silva V, Grandchamp B, Deybach JC.
    Hum Genet; 2004 Feb; 114(3):256-62. PubMed ID: 14669009
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  • 4. Genetic analysis of variegate porphyria (VP) in Italy: identification of six novel mutations in the protoporphyrinogen oxidase (PPOX) gene.
    D'Amato M, Bonuglia M, Barile S, Griso D, Macri A, Biolcati G.
    Hum Mutat; 2003 Apr; 21(4):448. PubMed ID: 12655566
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  • 5. Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations.
    Loskove Y, Yasuda M, Chen B, Nazarenko I, Cody N, Desnick RJ.
    Mol Genet Metab; 2019 Nov; 128(3):352-357. PubMed ID: 30385147
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  • 6. Overrepresentation of the founder PPOX gene mutation R59W in a South African patient with severe clinical manifestation of porphyria.
    de Villiers JN, Kotze MJ, van Heerden CJ, Sadie A, Gardner HF, Liebenberg J, van Zyl R, du Plessis L, Kimberg M, Frank J, Warnich L.
    Exp Dermatol; 2005 Jan; 14(1):50-5. PubMed ID: 15660919
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  • 8. 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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  • 13. Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations.
    Weiss Y, Chen B, Yasuda M, Nazarenko I, Anderson KE, Desnick RJ.
    Mol Genet Metab; 2019 Nov 27; 128(3):363-366. PubMed ID: 30514647
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  • 15. Diagnostic strategies for autosomal dominant acute porphyrias: retrospective analysis of 467 unrelated patients referred for mutational analysis of the HMBS, CPOX, or PPOX gene.
    Whatley SD, Mason NG, Woolf JR, Newcombe RG, Elder GH, Badminton MN.
    Clin Chem; 2009 Jul 27; 55(7):1406-14. PubMed ID: 19460837
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  • 18. Review: molecular pathogenesis of hepatic acute porphyrias.
    Grandchamp B, Puy H, Lamoril J, Deybach JC, Nordmann Y.
    J Gastroenterol Hepatol; 1996 Nov 27; 11(11):1046-52. PubMed ID: 8985829
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