The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6
Abstract
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, also known as Lan, which encodes an...
Paper Details
Title
The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6
Published Date
Aug 10, 2016
Journal
Volume
7
Issue
1
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