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Journal Abstract Search

184 related items for PubMed ID: 8852667

  • 1. 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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  • 3. 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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  • 4. Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation.
    Whatley SD, Puy H, Morgan RR, Robreau AM, Roberts AG, Nordmann Y, Elder GH, Deybach JC.
    Am J Hum Genet; 1999 Oct; 65(4):984-94. PubMed ID: 10486317
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  • 6. 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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  • 7. 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 Aug 27; 12(6):403-7. PubMed ID: 9829909
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  • 8. 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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  • 9. 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 27; 13(1):95-7. PubMed ID: 8673113
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  • 10. Molecular basis of variegate porphyria: a de novo insertion mutation in the protoporphyrinogen oxidase gene.
    Lam H, Dragan L, Tsou HC, Merk H, Peacocke M, Goerz G, Sassa S, Poh-Fitzpatrick M, Bickers DR, Christiano AM.
    Hum Genet; 1997 Jan 27; 99(1):126-9. PubMed ID: 9003509
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  • 11. Identification of a founder mutation in the protoporphyrinogen oxidase gene in variegate porphyria patients from chile.
    Frank J, Aita VM, Ahmad W, Lam H, Wolff C, Christiano AM.
    Hum Hered; 2001 Jan 27; 51(3):160-8. PubMed ID: 11173967
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  • 13. Molecular basis of variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene.
    Frank J, Lam H, Zaider E, Poh-Fitzpatrick M, Christiano AM.
    J Med Genet; 1998 Mar 27; 35(3):244-7. PubMed ID: 9541112
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  • 14. Variegate porphyria.
    Kirsch RE, Meissner PN, Hift RJ.
    Semin Liver Dis; 1998 Mar 27; 18(1):33-41. PubMed ID: 9516676
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  • 15. Variegate porphyria: identification of a nonsense mutation in the protoporphyrinogen oxidase gene.
    Frank J, Jugert FK, Kalka K, Goerz G, Merk HF, Christiano AM.
    J Invest Dermatol; 1998 Apr 27; 110(4):449-51. PubMed ID: 9540990
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  • 16. Homozygous variegate porphyria: a compound heterozygote with novel mutations in the protoporphyrinogen oxidase gene.
    Palmer RA, Elder GH, Barrett DF, Keohane SG.
    Br J Dermatol; 2001 Apr 27; 144(4):866-9. PubMed ID: 11298551
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  • 17. 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 27; 73(1):91-6. PubMed ID: 11350188
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  • 18. Three novel mutations in the protoporphyrinogen oxidase gene in Japanese patients with variegate porphyria.
    Maeda N, Horie Y, Sasaki Y, Adachi K, Nanba E, Nishida K, Saigo R, Nakagawa M, Kawasaki H, Kudo Y, Kondo M.
    Clin Biochem; 2000 Aug 27; 33(6):495-500. PubMed ID: 11074242
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