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Journal Abstract Search

224 related items for PubMed ID: 9738863

  • 1. 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]

  • 2. 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]

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

  • 4. 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]

  • 5. 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]

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

  • 7. 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]

  • 8. 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]

  • 9. 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]

  • 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. 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 27; 48(1):79-82. PubMed ID: 11929051
    [Abstract] [Full Text] [Related]

  • 12. 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
    [Abstract] [Full Text] [Related]

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

  • 14. 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]

  • 15. Molecular characterization of porphyrias in Italy: a diagnostic flow-chart.
    Martinez di Montemuros F, Di Pierro E, Patti E, Tavazzi D, Danielli MG, Biolcati G, Rocchi E, Cappellini MD.
    Cell Mol Biol (Noisy-le-grand); 2002 Dec 27; 48(8):867-76. PubMed ID: 12699245
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. 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
    [Abstract] [Full Text] [Related]

  • 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 27; 16(1):96. PubMed ID: 10874330
    [No Abstract] [Full Text] [Related]

  • 19. Clinical and biochemical characteristics and genotype-phenotype correlation in Finnish variegate porphyria patients.
    von und zu Fraunberg M, Timonen K, Mustajoki P, Kauppinen R.
    Eur J Hum Genet; 2002 Oct 27; 10(10):649-57. PubMed ID: 12357337
    [Abstract] [Full Text] [Related]

  • 20. 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 27; 48(1):57-60. PubMed ID: 11930946
    [Abstract] [Full Text] [Related]

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