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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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Bibliografische gegevens
Gepubliceerd in:PLoS One
Hoofdauteurs: 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.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Public Library of Science 2016
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5035022/
https://ncbi.nlm.nih.gov/pubmed/27661980
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0163322
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