A homozygous nonsense mutation (c.214C>A) in biliverdin reductase alpha gene (BLVRA) results in accumulation of biliverdin during episodes of cholestasis

Many liver diseases are accompanied by yellow jaundice due to impaired elimination of bilirubin, which is generated from biliverdin through biliverdin reductase activity. Two cases of unrelated Inuit women from different geographic areas in Greenland suffering from episodes of green jaundice due to biliverdin accumulation associated with biliary obstruction are reported. A mutation in the [...]

Source: http://blogs.bmj.com/jmg/2011/01/30/a-homozygous-nonsense-mutation-c-214ca-in-biliverdin-reductase-alpha-gene-blvra-results-in-accumulation-of-biliverdin-during-episodes-of-cholestasis/

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