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Journal Abstract Search

141 related items for PubMed ID: 11074242

  • 1.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 2. 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; 12(6):403-7. PubMed ID: 9829909
    [Abstract] [Full Text] [Related]

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

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

  • 6. Lack of the R59W South African founder effect mutation in protoporphyrinogen oxidase in a British patient with homozygous variegate porphyria.
    McGrath JA, Hawk JL, Graham RM, Christiano AM.
    Br J Dermatol; 1997 Feb; 136(2):292. PubMed ID: 9068758
    [No Abstract] [Full Text] [Related]

  • 7. 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; 16(6):532. PubMed ID: 11102990
    [No Abstract] [Full Text] [Related]

  • 8. 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
    [No Abstract] [Full Text] [Related]

  • 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; 116(5):821-3. PubMed ID: 11348478
    [No Abstract] [Full Text] [Related]

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

  • 11. 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; 99(1):126-9. PubMed ID: 9003509
    [Abstract] [Full Text] [Related]

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

  • 13. Single-strand conformational polymorphism and denaturing gradient gel electrophoresis in screening for variegate porphyria: identification of two new mutations.
    Donnelly JG, Detombe S, Hindmarsh JT.
    Ann Clin Lab Sci; 2002 Apr; 32(2):107-13. PubMed ID: 12017191
    [Abstract] [Full Text] [Related]

  • 14. 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
    [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; 65(4):984-94. PubMed ID: 10486317
    [Abstract] [Full Text] [Related]

  • 16. 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
    [Abstract] [Full Text] [Related]

  • 17. 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; 144(4):866-9. PubMed ID: 11298551
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. 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
    [Abstract] [Full Text] [Related]

  • 20. Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria.
    Warnich L, Kotze MJ, Groenewald IM, Groenewald JZ, van Brakel MG, van Heerden CJ, de Villiers JN, van de Ven WJ, Schoenmakers EF, Taketani S, Retief AE.
    Hum Mol Genet; 1996 Jul; 5(7):981-4. PubMed ID: 8817334
    [Abstract] [Full Text] [Related]

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