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Journal Abstract Search

202 related items for PubMed ID: 11929051

  • 1. 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; 48(1):79-82. PubMed ID: 11929051
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  • 2. 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
    [No Abstract] [Full Text] [Related]

  • 3. 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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  • 4. 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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  • 5. 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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  • 6. Variegate porphyria.
    Kirsch RE, Meissner PN, Hift RJ.
    Semin Liver Dis; 1998 May; 18(1):33-41. PubMed ID: 9516676
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  • 7. 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; 5(3):407-10. PubMed ID: 8852667
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  • 12. 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 Mar; 12(6):403-7. PubMed ID: 9829909
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  • 14. 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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  • 15. 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 04; 14(1):50-5. PubMed ID: 15660919
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  • 16. Molecular characterization of homozygous variegate porphyria.
    Roberts AG, Puy H, Dailey TA, Morgan RR, Whatley SD, Dailey HA, Martasek P, Nordmann Y, Deybach JC, Elder GH.
    Hum Mol Genet; 1998 Nov 04; 7(12):1921-5. PubMed ID: 9811936
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  • 17. 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 04; 69(4):323-30. PubMed ID: 10870850
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