The D519G Polymorphism of Glyceronephosphate O-Acyltransferase Is a Risk Factor for Familial Porphyria Cutanea Tarda

Both familial and sporadic porphyria cutanea tarda (PCT) are iron dependent diseases. Symptoms of PCT resolve when iron stores are depleted by phlebotomy, and a sequence variant of HFE (C282Y, c.843G>A, rs1800562) that enhances iron aborption by reducing hepcidin expression is a risk factor for P...

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Detalles Bibliográficos
Autores principales: Farrell, Colin P., Overbey, Jessica R., Naik, Hetanshi, Nance, Danielle, McLaren, Gordon D., McLaren, Christine E., Zhou, Luming, Desnick, Robert J., Parker, Charles J., Phillips, John D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5035022/
https://www.ncbi.nlm.nih.gov/pubmed/27661980
http://dx.doi.org/10.1371/journal.pone.0163322

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5035022/
https://www.ncbi.nlm.nih.gov/pubmed/27661980
http://dx.doi.org/10.1371/journal.pone.0163322

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