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...

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Bibliographische Detailangaben
Veröffentlicht in:Dis Model Mech
Hauptverfasser: 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.
Format: Artigo
Sprache:Inglês
Veröffentlicht: The Company of Biologists Ltd 2017
Schlagworte:
Research Article
Online Zugang: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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