| 1 | PPOX, VP1
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| Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria.
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| Barbaro M, Kotajärvi M, Harper P, Floderus Y.
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| Orphanet J Rare Dis 8:13. doi: 10.1186/1750-1172-8-13.
2013
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| 2 | PPOX, VP1
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| Antioxidants restore protoporphyrinogen oxidase in variegate porphyria patients.
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| Ferrer MD, Tauler P, Sureda A, Palacín C, Tur JA, Pons A.
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| Eur J Clin Invest ur J Clin Invest. 2013 Apr 16. doi: 10.1111/eci.12091. [Epub ahead of print]
2013
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| 3 | PPOX, VP1
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| Structural insight into human variegate porphyria disease.
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| Qin X, Tan Y, Wang L, Wang Z, Wang B, Wen X, Yang G, Xi Z, Shen Y.
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| FASEB J 25(2):653-64. doi: 10.1096/fj.10-170811. Epub 2010 Nov 3.
2011
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| 4 | PPOX, VP1
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| Clinic and genetic evaluation of variegate porphyria (VP) in a large family from the Balearic Islands.
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| Bonnin A, Picornell A, Orfila J, Castro JA, Ramon MM.
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| J Inherit Metab Dis 32 Suppl 1. doi: 10.1007/s10545-009-1059-2. Epub 2009 Feb 20.
2009
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| 5 | PPOX
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| GATA-1 binding sites in exon 1 direct erythroid-specific transcription of PPOX.
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| de Vooght KM, van Wijk R, van Solinge WW.
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| Gene 409(1-2):83-91. Epub 2007 Dec 4.
2008
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| 6 | PPOX
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| Mitochondrial targeting of human protoporphyrinogen oxidase.
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| Davids LM, Corrigall AV, Meissner PN.
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| Cell Biol Int 30(5):416-26. Epub 2006 Mar 6.
2006
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| 7 | EPPX, PPOX, VP1
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| Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.
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| Gouya L, Puy H, Robreau AM, Lyoumi S, Lamoril J, Da Silva V, Grandchamp B, Deybach JC.
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| Hum Genet 114(3):256-62. Epub 2003 Dec 11. 2004
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| 8 | PPOX
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| Identification of sequences required for the import of human protoporphyrinogen oxidase to mitochondria.
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| Morgan RR, Errington R, Elder GH.
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| Biochem J 377(Pt 2):281-7.
2004
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| 9 | PPOX
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| Mitochondrial targeting of normal and mutant protoporphyrinogen oxidase.
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| von und zu Fraunberg M, Nyröen T, Kauppinen R.
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| J Biol Chem 278(15):13376-81. Epub 2003 Jan 28.
2003
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| 10 | PPOX, VP1
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| 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.
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| Whatley SD, et al.
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| Am J Hum Genet 65(4):984-994 1999
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| 11 | PPOX, VP1
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| Molecular basis of variegate porphyria : a missense mutation in the protoporphyrinogen oxidase gene.
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| Frank J, et al.
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| J Med Genet 35 : 244-247. 1998
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| 12 | PPOX, VP1
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| Homozygous variegate porphyria : identification of mutations on both alleles of the protoporphyrinogen oxidase gene in a severely affected proband.
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| Frank J, et al.
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| J Invest Dermatol 110 : 452-455. 1998
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| 13 | PPOX, VP1
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| Recurrent missense mutation in the protoporphyrinogen oxidase gene underlies variegate porphyria.
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| Frank J, Jugert FK, Breitkopf C, Goerz G, Merk HF, Christiano AM.
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| Am J Med Genet 79(1):22-6. 1998
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| 14 | PPOX, VP1
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| Identification and characterization of a deletion (537delAT) in the protoporphyrinogen oxidase gene in a South African variegate porphyria family.
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| Corrigall AV, Hift RJ, Hancock V, Meissner D, Davids L, Kirsch RE, Meissner PN.
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| Hum Mutat 12 : 403-407. 1998
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| 15 | PPOX, VP1
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| Molecular characterization of homozygous variegate porphyria.
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| Roberts AG, et al.
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| Hum Mol Genet 7 : 1921-1925. 1998
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| 16 | PPOX, VP1
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| 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.
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| Kotze MJ, De Villiers JN, Groenewald JZ, Rooney RN, Loubser O, Thiart R, Oosthuizen CJ, van Niekerk MM, Groenewald IM, Retief AE, Warnich L.
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| Mol Cell Probes 12 : 293-300. 1998
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| 17 | PPOX, VP1
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| Molecular basis of variegate porphyria : a de novo insertion mutation in the protoporphyrinogen oxidase gene.
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| Lam HM, et al.
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| Hum Genet 99 : 126-129. 1997
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| 18 | PPOX, VP1
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| Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria.
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| Deybach JC, et al.
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| Hum Mol Genet 5 : 407-410. 1996
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| 19 | PPOX, VP1
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| A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria.
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| Meissner PN, et al.
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| Nat Genet 13 : 95-97. 1996
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| 20 | VP1, PPOX
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| Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria.
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| Warnich L, et al.
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| Hum Mol Genet 5 : 981-984. 1996
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| 21 | PPOX
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| The human protoporphyrinogen oxidase gene (PPOX): organization and location to chromosome 1.
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| Taketani S, Inazawa J, Abe T, Furukawa T, Kohno H, Tokunaga R, Nishimura K, Inokuchi H.
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| Genomics 29(3):698-703. 1995
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| 22 | PPOX, VP1
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| Partial characterization and assignment of the gene for protoporphyrinogen oxidase and variegate porphyria to human chromosome 1q23.
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| Roberts AG, et al.
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| Hum Mol Genet 4 : 2387-2390. 1995
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