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Journal Abstract Search

328 related items for PubMed ID: 15660919

  • 1. 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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  • 5. 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 Jan; 12(6):403-7. PubMed ID: 9829909
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  • 6. 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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  • 9. A Chilean boy with severe photosensitivity and finger shortening: the first case of homozygous variegate porphyria in South America.
    Poblete-Gutiérrez P, Wolff C, Farias R, Frank J.
    Br J Dermatol; 2006 Feb; 154(2):368-71. PubMed ID: 16433813
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  • 10. 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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  • 14. 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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  • 15. A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria.
    Meissner PN, Dailey TA, Hift RJ, Ziman M, Corrigall AV, Roberts AG, Meissner DM, Kirsch RE, Dailey HA.
    Nat Genet; 1996 May; 13(1):95-7. PubMed ID: 8673113
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  • 16. Protoporphyrinogen oxidase: complete genomic sequence and polymorphisms in the human gene.
    Puy H, Robréau AM, Rosipal R, Nordmann Y, Deybach JC.
    Biochem Biophys Res Commun; 1996 Sep 04; 226(1):226-30. PubMed ID: 8806618
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  • 17. Molecular analysis reveals a high mutation frequency in the first untranslated exon of the PPOX gene and largely excludes variegate porphyria in a subset of clinically affected Afrikaner families.
    Kotze MJ, De Villiers JN, Groenewald JZ, Rooney RN, Loubser O, Thiart R, Oosthuizen CJ, van Niekerk MM, Groenewald IM, Retief AE, Warnich L.
    Mol Cell Probes; 1998 Oct 04; 12(5):293-300. PubMed ID: 9778454
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