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Journal Abstract Search

223 related items for PubMed ID: 9540991

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  • 3. Homozygous variegate porphyria: 20 y follow-up and characterization of molecular defect.
    Kauppinen R, Timonen K, von und zu Fraunberg M, Laitinen E, Ahola H, Tenhunen R, Taketani S, Mustajoki P.
    J Invest Dermatol; 2001 Apr; 116(4):610-3. PubMed ID: 11286631
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  • 7. 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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  • 8. 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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  • 9. A spectrum of novel mutations in the protoporphyrinogen oxidase gene in 13 families with variegate porphyria.
    Frank J, Jugert FK, Merk HF, Kalka K, Goerz G, Anderson K, Bickers DR, Poh-Fitzpatrick MB, Christiano AM.
    J Invest Dermatol; 2001 May 27; 116(5):821-3. PubMed ID: 11348478
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  • 11. Variegate porphyria.
    Kirsch RE, Meissner PN, Hift RJ.
    Semin Liver Dis; 1998 May 27; 18(1):33-41. PubMed ID: 9516676
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  • 12. 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 27; 21(4):448. PubMed ID: 12655566
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  • 13. Mutations in the translation initiation codon of the protoporphyrinogen oxidase gene underlie variegate porphyria.
    Frank J, McGrath JA, Poh-Fitzpatrick MB, Hawk JL, Christiano AM.
    Clin Exp Dermatol; 1999 Jul 27; 24(4):296-301. PubMed ID: 10457135
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  • 14. 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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  • 18. Characteristics of human protoporphyrinogen oxidase in controls and variegate porphyrias.
    Dailey HA, Dailey TA.
    Cell Mol Biol (Noisy-le-grand); 1997 Feb 27; 43(1):67-73. PubMed ID: 9074790
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  • 19. 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 27; 65(4):984-94. PubMed ID: 10486317
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  • 20. 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 Oct 27; 51(3):160-8. PubMed ID: 11173967
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