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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Vydáno v:Dis Model Mech
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: The Company of Biologists Ltd 2017
Témata:
Research Article
On-line přístup: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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