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Journal Abstract Search

173 related items for PubMed ID: 9003509

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  • 2. 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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  • 3. 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; 35(3):244-7. PubMed ID: 9541112
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  • 7. Partial characterization and assignment of the gene for protoporphyrinogen oxidase and variegate porphyria to human chromosome 1q23.
    Roberts AG, Whatley SD, Daniels J, Holmans P, Fenton I, Owen MJ, Thompson P, Long C, Elder GH.
    Hum Mol Genet; 1995 Dec; 4(12):2387-90. PubMed ID: 8634714
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  • 9. The genetic basis of "Scarsdale Gourmet Diet" variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene.
    Frank J, Poh-Fitzpatrick MB, King LE, Christiano AM.
    Arch Dermatol Res; 1998 Aug; 290(8):441-5. PubMed ID: 9763307
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  • 10. Variegate porphyria with coexistent decrease in porphobilinogen deaminase activity.
    Weinlich G, Doss MO, Sepp N, Fritsch P.
    Acta Derm Venereol; 2001 Aug; 81(5):356-9. PubMed ID: 11800145
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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 Aug; 51(3):160-8. PubMed ID: 11173967
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  • 12. Expression and characterization of six mutations in the protoporphyrinogen oxidase gene among Finnish variegate porphyria patients.
    von und zu Fraunberg M, Tenhunen R, Kauppinen R.
    Mol Med; 2001 May; 7(5):320-8. PubMed ID: 11474578
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  • 13. 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; 110(4):449-51. PubMed ID: 9540990
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  • 14. 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 Apr; 12(6):403-7. PubMed ID: 9829909
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  • 15. 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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  • 16. Characteristics of human protoporphyrinogen oxidase in controls and variegate porphyrias.
    Dailey HA, Dailey TA.
    Cell Mol Biol (Noisy-le-grand); 1997 Feb; 43(1):67-73. PubMed ID: 9074790
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  • 17. 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; 33(6):495-500. PubMed ID: 11074242
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  • 18. A novel mutation (1320InsT) identified in two Argentine families with variegate porphyria.
    Siervi AD, Parera VE, Varela LS, Batlle AM, Rossetti MV.
    Hum Mutat; 2000 Jul; 16(1):96. PubMed ID: 10874330
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  • 19. 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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  • 20. 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 04; 21(4):448. PubMed ID: 12655566
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