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Journal Abstract Search

145 related items for PubMed ID: 11286631

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  • 4. 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
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  • 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
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  • 6. 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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  • 8. Molecular characterization of homozygous variegate porphyria.
    Roberts AG, Puy H, Dailey TA, Morgan RR, Whatley SD, Dailey HA, Martasek P, Nordmann Y, Deybach JC, Elder GH.
    Hum Mol Genet; 1998 Nov; 7(12):1921-5. PubMed ID: 9811936
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  • 9. 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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  • 13. An unusual case of variegate porphyria with possible homozygous inheritance.
    Coakley J, Hawkins R, Crinis N, McManus J, Blake D, Nordmann Y, Sloan L, Connelly J.
    Aust N Z J Med; 1990 Aug; 20(4):587-9. PubMed ID: 2222353
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  • 16. 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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  • 19. Characteristics of human protoporphyrinogen oxidase in controls and variegate porphyrias.
    Dailey HA, Dailey TA.
    Cell Mol Biol (Noisy-le-grand); 1997 Feb 27; 43(1):67-73. PubMed ID: 9074790
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  • 20. Molecular analysis reveals a high mutation frequency in the first untranslated exon of the PPOX gene and largely excludes variegate porphyria in a subset of clinically affected Afrikaner families.
    Kotze MJ, De Villiers JN, Groenewald JZ, Rooney RN, Loubser O, Thiart R, Oosthuizen CJ, van Niekerk MM, Groenewald IM, Retief AE, Warnich L.
    Mol Cell Probes; 1998 Oct 27; 12(5):293-300. PubMed ID: 9778454
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