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Journal Abstract Search

175 related items for PubMed ID: 12017191

  • 1. Single-strand conformational polymorphism and denaturing gradient gel electrophoresis in screening for variegate porphyria: identification of two new mutations.
    Donnelly JG, Detombe S, Hindmarsh JT.
    Ann Clin Lab Sci; 2002; 32(2):107-13. PubMed ID: 12017191
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  • 2. 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; 12(6):403-7. PubMed ID: 9829909
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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. 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; 69(4):323-30. PubMed ID: 10870850
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  • 6. Variegate porphyria.
    Kirsch RE, Meissner PN, Hift RJ.
    Semin Liver Dis; 1998 Apr; 18(1):33-41. PubMed ID: 9516676
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  • 7. 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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  • 8. Two new mutations (H106P and L178V) in the protoporphyrinogen oxidase gene in Argentinean patients with variegate porphyria.
    De Siervi A, Parera VE, del C Batlle AM, Rossetti MV.
    Hum Mutat; 2000 Dec; 16(6):532. PubMed ID: 11102990
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  • 12. Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria.
    Warnich L, Kotze MJ, Groenewald IM, Groenewald JZ, van Brakel MG, van Heerden CJ, de Villiers JN, van de Ven WJ, Schoenmakers EF, Taketani S, Retief AE.
    Hum Mol Genet; 1996 Jul; 5(7):981-4. PubMed ID: 8817334
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  • 13. 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; 48(1):57-60. PubMed ID: 11930946
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  • 17. Gne symbol: PPOX. Disease: variegate porphyria.
    Patti E, Di Pierro E, Cappellini MD.
    Hum Genet; 2004 Jul; 115(2):170. PubMed ID: 15300965
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  • 20. 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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