| 1 | CPOX
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| Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria.
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| Schmitt C, Gouya L, Malonova E, Lamoril J, Camadro JM, Flamme M, Rose C, Lyoumi S, Da Silva V, Boileau C, Grandchamp B, Beaumont C, Deybach JC, Puy H.
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| Hum Mol Genet 14(20):3089-98. Epub 2005 Sep 13. 2005
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| 2 | CPOX
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| Structural basis of hereditary coproporphyria.
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| Lee DS, Flachsova E, Bodnarova M, Demeler B, Martasek P, Raman CS.
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| Proc Natl Acad Sci U S A 102(40):14232-7. Epub 2005 Sep 21. 2005
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| 3 | CPOX
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| Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria.
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| Lamoril J, Puy H, Whatley SD, Martin C, Woolf JR, Da Silva V, Deybach JC, Elder GH.
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| Am J Hum Genet 68(5):1130-8. 2001
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| 4 | CPOX
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| Three novel mutations in the coproporphyrinogen oxidase gene.
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| Lamoril J, et al.
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| Hum Mutat 9 : 78-80. 1997
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| 5 | CPOX
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| A novel missense mutation in exon 4 of the human coproporphyrinogen oxidase gene in two patients with hereditary coproporphyria.
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| Daimon M, et al.
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| Hum Genet 99 : 199-201. 1997
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| 6 | CPOX
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| Molecular defects of the coproporphyrinogen oxidase gene in hereditary coproporphyria.
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| Sassa S, et al.
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| Cell Mol Biol 43 : 59-66. 1997
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| 7 | CPOX
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| Hereditary coproporphyria: exon screening by heteroduplex analysis detects three novel mutations in the coproporphyrinogen oxidase gene.
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| Schreiber WE, Zhang X, Senz J, Jamani A.
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| Hum Mutat 10(3):196-200. 1997
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| 8 | CPOX
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| A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria.
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| Lamoril J, et al.
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| Hum Mol Genet 4 : 275-278. 1995
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| 9 | CPOX
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| Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms.
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| Martasek P, et al.
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| Hum Mol Genet 3 : 477-480. 1994
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| 10 | CPOX
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| Molecular cloning, sequencing and expression of cDNA encoding human coproporphyrinogen oxidase.
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| Taketani S, et al.
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| Biochim Biophys Acta 1183 : 547-549. 1994
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| 11 | CPOX
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| Molecular cloning, sequencing, and functional expression of a cDNA encoding human coproporphyrinogen oxidase.
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| Martasek P, et al.
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| Proc Natl Acad Sci U S A 91 : 3024-3028. 1994
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| 12 | CPOX
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| Coproporphyrinogene oxidase : gene organization and description of a mutation leading to exon 6 skipping.
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| Delfau-Larue MH, et al.
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| Hum Mol Genet 3 : 1325-1330. 1994
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| 13 | CPOX
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| Characterization and expression of cDNA encoding coproporphyrinogen oxidase from a patient with hereditary coproporphyria.
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| Fujita H, et al.
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| Hum Mol Genet 3 : 1807-1810. 1994
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| 14 | CPOX
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| Localization of the human coproporphyrinogen oxidase gene to chromosome band 3q12.
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| Cacheux V, et al.
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| Hum Genet 94 : 557-559. 1994
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| 15 | CPOX
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| Assignment of the human coproporphyrinogen oxidase to chromosome 9.
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| Grandchamp B, et al.
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| Hum Genet 64 : 180-183. 1983
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| 16 | CPOX
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| The primary enzyme defect in hereditary coproporphyria.
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| Elder GH, et al.
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| Lancet 2 : 1217-1219. 1976
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