The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6

Hereditary porphyrias are caused by mutations in genes that encode haem biosynthetic enzymes with resultant buildup of cytotoxic metabolic porphyrin intermediates. A long-standing open question is why the same causal porphyria mutations exhibit widely variable penetrance and expressivity in differen...

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Detalles Bibliográficos
Autores principales: Fukuda, Yu, Cheong, Pak Leng, Lynch, John, Brighton, Cheryl, Frase, Sharon, Kargas, Vasileios, Rampersaud, Evadnie, Wang, Yao, Sankaran, Vijay G., Yu, Bing, Ney, Paul A., Weiss, Mitchell J., Vogel, Peter, Bond, Peter J., Ford, Robert C., Trent, Ronald J., Schuetz, John D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4987512/
https://www.ncbi.nlm.nih.gov/pubmed/27507172
http://dx.doi.org/10.1038/ncomms12353

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