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Journal Abstract Search

222 related items for PubMed ID: 12655566

  • 1. 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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  • 2. Identification of the first variegate porphyria mutation in an indigenous black South African and further evidence for heterogeneity in variegate porphyria.
    Corrigall AV, Hift RJ, Davids LM, Hancock V, Meissner D, Kirsch RE, Meissner PN.
    Mol Genet Metab; 2001 May; 73(1):91-6. PubMed ID: 11350188
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  • 3. 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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  • 4. Functional studies of mutations in the human protoporphyrinogen oxidase gene in variegate porphyria.
    Morgan RR, da SV, Puy H, Deybach JC, Elder GH.
    Cell Mol Biol (Noisy-le-grand); 2002 Feb 27; 48(1):79-82. PubMed ID: 11929051
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  • 5. 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 27; 48(8):867-76. PubMed ID: 12699245
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  • 6. Homozygous variegate porphyria in South Africa: genotypic analysis in two cases.
    Corrigall AV, Hift RJ, Davids LM, Hancock V, Meissner D, Kirsch RE, Meissner PN.
    Mol Genet Metab; 2000 Apr 27; 69(4):323-30. PubMed ID: 10870850
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  • 7. Clinical and biochemical characteristics and genotype-phenotype correlation in Finnish variegate porphyria patients.
    von und zu Fraunberg M, Timonen K, Mustajoki P, Kauppinen R.
    Eur J Hum Genet; 2002 Oct 27; 10(10):649-57. PubMed ID: 12357337
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  • 8. Identification and characterisation of a deletion (537delAT) in the protoporphyrinogen oxidase gene in a South African variegate porphyria family.
    Corrigall AV, Hift RJ, Hancock V, Meissner D, Davids L, Kirsch RE, Meissner PN.
    Hum Mutat; 1998 Oct 27; 12(6):403-7. PubMed ID: 9829909
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  • 13. Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria.
    Deybach JC, Puy H, Robréau AM, Lamoril J, Da Silva V, Grandchamp B, Nordmann Y.
    Hum Mol Genet; 1996 Mar 27; 5(3):407-10. PubMed ID: 8852667
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  • 16. Nine novel mutations in the protoporphyrinogen oxidase gene in Swedish families with variegate porphyria.
    Wiman A, Harper P, Floderus Y.
    Clin Genet; 2003 Aug 27; 64(2):122-30. PubMed ID: 12859407
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  • 17. [Identification of mutations in the protoporphyrin oxidase gene and its diagnostic implications in porphyria variegata in Chile].
    Wolff C, Frank J, Poblete-Gutiérrez P.
    Rev Invest Clin; 2006 Aug 27; 58(4):289-95. PubMed ID: 17146940
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  • 18. Haplotype analysis excludes the functional protoporphyrinogen oxidase promoter polymorphism -1081G>A as a modifying factor in the clinical expression of variegate porphyria.
    Warnich L, Kimberg M, Kotze MJ, Ohashi T, Taketani S, Louw BJ.
    Cell Mol Biol (Noisy-le-grand); 2002 Feb 27; 48(1):57-60. PubMed ID: 11930946
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