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Journal Abstract Search

236 related items for PubMed ID: 9540990

  • 1. 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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  • 2. Homozygous variegate porphyria: identification of mutations on both alleles of the protoporphyrinogen oxidase gene in a severely affected proband.
    Frank J, McGrath J, Lam H, Graham RM, Hawk JL, Christiano AM.
    J Invest Dermatol; 1998 Apr; 110(4):452-5. PubMed ID: 9540991
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  • 3. 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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  • 4. 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 Aug; 12(6):403-7. PubMed ID: 9829909
    [Abstract] [Full Text] [Related]

  • 5. 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
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  • 6. 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
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  • 7. Homozygous variegate porphyria: 20 y follow-up and characterization of molecular defect.
    Kauppinen R, Timonen K, von und zu Fraunberg M, Laitinen E, Ahola H, Tenhunen R, Taketani S, Mustajoki P.
    J Invest Dermatol; 2001 Apr 27; 116(4):610-3. PubMed ID: 11286631
    [Abstract] [Full Text] [Related]

  • 8. 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 27; 116(5):821-3. PubMed ID: 11348478
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  • 14. 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
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  • 19. 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
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