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

Accumulation of intermediates of haem biosynthesis, porphyrins, is harmful and usually inherited, but it is unclear how the same mutation may make some individuals more ill than others. Here, the authors show that a porphyrin transporter ABCB6 is a modulator of porphyria, and that patients with func...

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Auteurs principaux: Yu Fukuda, Pak Leng Cheong, John Lynch, Cheryl Brighton, Sharon Frase, Vasileios Kargas, Evadnie Rampersaud, Yao Wang, Vijay G. Sankaran, Bing Yu, Paul A. Ney, Mitchell J. Weiss, Peter Vogel, Peter J. Bond, Robert C. Ford, Ronald J. Trent, John D. Schuetz
Format: article
Langue:EN
Publié: Nature Portfolio 2016
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Accès en ligne:https://doaj.org/article/f70f19a560514d38b6084532b9be685d
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