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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Detalhes bibliográficos
Publicado no:Dis Model Mech
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: The Company of Biologists Ltd 2017
Assuntos:
Research Article
Acesso em linha: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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