Article
The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6.
Nature communications - 10 Aug 2016
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
Abstract excerpt
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 different individuals. Here we show that severely affected porphyria patients harbour variant alleles in the ABCB6 gene,...
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