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134 related items for PubMed ID: 33159949

  • 1. Novel PPOX exonic mutation inducing aberrant splicing in a patient with homozygous variegate porphyria.
    Cho SY, Lau EY, Luk DC, Law CY, Lai CK, Lam CW.
    Clin Chim Acta; 2021 Jan; 512():117-120. PubMed ID: 33159949
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  • 2. The assessment of noncoding variant of PPOX gene in variegate porphyria reveals post-transcriptional role of the 5' untranslated exon 1.
    Fiorentino V, Brancaleoni V, Granata F, Graziadei G, Di Pierro E.
    Blood Cells Mol Dis; 2016 Oct; 61():48-53. PubMed ID: 27667166
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  • 8. [Identification of mutations in the protoporphyrin oxidase gene and its diagnostic implications in porphyria variegata in Chile].
    Wolff C, Frank J, Poblete-Gutiérrez P.
    Rev Invest Clin; 2006 Oct; 58(4):289-95. PubMed ID: 17146940
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  • 10. Extended haplotype studies in South African and Dutch variegate porphyria families carrying the recurrent p.R59W mutation confirm a common ancestry.
    van Tuyll van Serooskerken AM, Drögemöller BI, Te Velde K, Bladergroen RS, Steijlen PM, Poblete-Gutiérrez P, van Geel M, van Heerden CJ, Warnich L, Frank J.
    Br J Dermatol; 2012 Feb; 166(2):261-5. PubMed ID: 21910705
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  • 11. Novel human pathological mutations. Gene symbol: PPOX. Disease: porphyria, variegate.
    Ausenda S, Di Pierro E, Brancaleoni V, Besana V, Cappellini MD.
    Hum Genet; 2007 Nov; 122(3-4):417. PubMed ID: 18350656
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  • 12. Novel human pathological mutations. Gene symbol: PPOX. Disease: porphyria, variegate.
    Ausenda S, Moriondo V, Marchini S, Besana V, Di Pierro E, Brancaleoni V, Ventura P, Rocchi E, Cappellini MD.
    Hum Genet; 2009 Apr; 125(3):344. PubMed ID: 19320019
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  • 15. 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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  • 17. Two new mutations in the PPOX gene in a patient with variegate porphyria.
    Collantes-Rodríguez C, de la Varga-Martínez R, Villegas-Romero I, Jiménez-Gallo D, Linares-Barrios M, Mora-López F.
    J Dtsch Dermatol Ges; 2020 Apr; 18(4):381-383. PubMed ID: 32247286
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  • 18. 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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