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Modeling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice

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 that evoke excessive pain and, after longer light exposure, cause ulcerations in...

詳細記述

保存先:
書誌詳細
出版年:Dis Model Mech
主要な著者: Barman-Aksözen, Jasmin, C´wiek, Paulina, Bansode, Vijay B., Koentgen, Frank, Trüb, Judith, Pelczar, Pawel, Cinelli, Paolo, Schneider-Yin, Xiaoye, Schümperli, Daniel, Minder, Elisabeth I.
フォーマット: Artigo
言語:Inglês
出版事項: The Company of Biologists Ltd 2017
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5374324/
https://ncbi.nlm.nih.gov/pubmed/28093505
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/dmm.027755
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