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Uroporphyrinogen 3 cosynthetase in human congenital erythropoietic porphyria.
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Uroporphyrinogen 3 cosynthetase in bovine erythropoietic porphyria.
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Congenital erythropoietic porphyria (Günther's disease): enzymatic studies on two cases of late onset.
J Lab Clin Med. 1981 Apr;97(4):551-8.
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Erythropoietic porphyria of the fox squirrel Sciurus niger.
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[Pathobiochemical observations on porphyrias--the correlation between uroporphyrinogen I synthetase and III cosynthetase activity in congenital erythropoietic porphyria (author's transl)].
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The activities of uroporphyrinogen synthetase and cosynthetase in congenital erythropoietic porphyria (CEP).
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Uroporphyrinogen 3 cosynthetase activity in the fox squirrel (Sciurus niger).
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Uroporphyrinogen 3 cosynthetase activity in fibroblasts from patients with congenital erythropoietic porphyria.
Biochem Genet. 1970 Dec;4(6):659-64. doi: 10.1007/BF00486379.
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Prenatal exclusion of congenital erythropoietic porphyria (Günther's disease) in a fetus at risk.
Hum Genet. 1980 Feb;53(2):217-21. doi: 10.1007/BF00273499.
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Congenital erythropoietic porphyria. A mild variant with low uroporphyrin I levels due to a missense mutation (A66V) encoding residual uroporphyrinogen III synthase activity.
Arch Dermatol. 1992 Sep;128(9):1243-8. doi: 10.1001/archderm.128.9.1243.
引用本文的文献
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Porphyrias in the Age of Targeted Therapies.
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Congenital erythropoietic porphyria: Recent advances.
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3
Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.
Curr Protoc Hum Genet. 2015 Jul 1;86:17.20.1-17.20.26. doi: 10.1002/0471142905.hg1720s86.
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Mutational analysis of uroporphyrinogen III cosynthase gene in Iranian families with congenital erythropoietic porphyria.
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Homing endonucleases: from basics to therapeutic applications.
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Structure and mechanistic implications of a uroporphyrinogen III synthase-product complex.
Biochemistry. 2008 Aug 19;47(33):8648-55. doi: 10.1021/bi800635y. Epub 2008 Jul 24.
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Effective gene therapy of mice with congenital erythropoietic porphyria is facilitated by a survival advantage of corrected erythroid cells.
Am J Hum Genet. 2008 Jan;82(1):113-24. doi: 10.1016/j.ajhg.2007.09.007.
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Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions.
Am J Hum Genet. 2006 Apr;78(4):645-58. doi: 10.1086/502667. Epub 2006 Feb 9.
9
Gene transfer of the uroporphyrinogen III synthase cDNA into haematopoietic progenitor cells in view of a future gene therapy in congenital erythropoietic porphyria.
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A novel point mutation in congenital erythropoietic porphyria in two members of Japanese family.
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Biosynthesis of prophyrins and congenital prophyria.
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A qualitative and quantitative study of the separation of uroporphyrin octamethyl esters I and III by dioxan chromatography.
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