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Journal Abstract Search

153 related items for PubMed ID: 11298551

  • 1. 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
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  • 2. 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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  • 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
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  • 4. 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]

  • 5. 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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  • 7. 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 Oct; 12(6):403-7. PubMed ID: 9829909
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  • 8. 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
    [No Abstract] [Full Text] [Related]

  • 9. 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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  • 10. Variegate porphyria.
    Kirsch RE, Meissner PN, Hift RJ.
    Semin Liver Dis; 1998 Aug; 18(1):33-41. PubMed ID: 9516676
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  • 11. 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
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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; 21(4):448. PubMed ID: 12655566
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  • 15. 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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  • 17. Gne symbol: PPOX. Disease: variegate porphyria.
    Patti E, Di Pierro E, Cappellini MD.
    Hum Genet; 2004 Jul; 115(2):170. PubMed ID: 15300965
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