Modelling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in...
Modelling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice
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England: The Company of Biologists Ltd
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Language
English
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England: The Company of Biologists Ltd
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Erythropoietic Protoporphyria (EPP) is caused by deficiency of ferrochelatase (FECH) which incorporates iron into protoporphyrin IX (PPIX) to form heme. Excitation of accumulated PPIX by light generates oxygen radicals which evoke excessive pain and, after longer light exposure, ulcerations in exposed skin areas of EPP patients. Moreover, ∼5% of th...
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Full title
Modelling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice
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TN_cdi_doaj_primary_oai_doaj_org_article_82087eb4bf224a71a8c100020e20c040
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_82087eb4bf224a71a8c100020e20c040
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ISSN
1754-8403
E-ISSN
1754-8411
DOI
10.1242/dmm.027755
