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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5374324/
https://www.ncbi.nlm.nih.gov/pubmed/28093505
http://dx.doi.org/10.1242/dmm.027755

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5374324/
https://www.ncbi.nlm.nih.gov/pubmed/28093505
http://dx.doi.org/10.1242/dmm.027755

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