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Journal Abstract Search

184 related items for PubMed ID: 9541112

  • 1. 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
    [Abstract] [Full Text] [Related]

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  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. 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 27; 290(8):441-5. PubMed ID: 9763307
    [Abstract] [Full Text] [Related]

  • 6. 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 27; 5(3):407-10. PubMed ID: 8852667
    [Abstract] [Full Text] [Related]

  • 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 27; 4(12):2387-90. PubMed ID: 8634714
    [Abstract] [Full Text] [Related]

  • 8. 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 Dec 27; 51(3):160-8. PubMed ID: 11173967
    [Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. 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 Jul 27; 12(6):403-7. PubMed ID: 9829909
    [Abstract] [Full Text] [Related]

  • 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 27; 7(5):320-8. PubMed ID: 11474578
    [Abstract] [Full Text] [Related]

  • 13. 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
    [No Abstract] [Full Text] [Related]

  • 14. 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
    [Abstract] [Full Text] [Related]

  • 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 27; 65(4):984-94. PubMed ID: 10486317
    [Abstract] [Full Text] [Related]

  • 16. 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 27; 16(6):532. PubMed ID: 11102990
    [No Abstract] [Full Text] [Related]

  • 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 27; 69(4):323-30. PubMed ID: 10870850
    [Abstract] [Full Text] [Related]

  • 18. Variegate porphyria with coexistent decrease in porphobilinogen deaminase activity.
    Weinlich G, Doss MO, Sepp N, Fritsch P.
    Acta Derm Venereol; 2001 Apr 27; 81(5):356-9. PubMed ID: 11800145
    [Abstract] [Full Text] [Related]

  • 19. Variegate porphyria.
    Kirsch RE, Meissner PN, Hift RJ.
    Semin Liver Dis; 1998 Apr 27; 18(1):33-41. PubMed ID: 9516676
    [Abstract] [Full Text] [Related]

  • 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 27; 21(4):448. PubMed ID: 12655566
    [Abstract] [Full Text] [Related]

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