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Journal Abstract Search

168 related items for PubMed ID: 11474578

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  • 7. 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; 10(10):649-57. PubMed ID: 12357337
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  • 12. 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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  • 13. 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; 51(3):160-8. PubMed ID: 11173967
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  • 16. 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; 12(5):293-300. PubMed ID: 9778454
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  • 17. 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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  • 18. 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 27; 12(6):403-7. PubMed ID: 9829909
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