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

Green jaundice is a rare finding usually associated with end-stage liver disease. OBJECTIVE The authors investigated two unrelated Inuit women from different geographical areas in Greenland who had episodes of green jaundice associated with biliary obstruction.

Bibliographic Details
Published in:Journal of Medical Genetics
Main Authors: Nytofte, Nikolaj S, Serrano, Maria A, Monte, Maria J, Gonzalez-Sanchez, Ester, Tumer, Zeynep, Ladefoged, Karin, Briz, Oscar, Marin, Jose J G
Format: Article in Journal/Newspaper
Language:English
Published: 2011
Subjects:
Greenland
inuit
Online Access:https://curis.ku.dk/portal/da/publications/a-homozygous-nonsense-mutation-c214ca-in-the-biliverdin-reductase-alpha-gene-blvra-results-in-accumulation-of-biliverdin-during-episodes-of-cholestasis(cfc6a2df-d45c-446f-8c5d-f9b5841102b4).html
https://doi.org/10.1136/jmg.2009.074567
Description
Summary:Green jaundice is a rare finding usually associated with end-stage liver disease. OBJECTIVE The authors investigated two unrelated Inuit women from different geographical areas in Greenland who had episodes of green jaundice associated with biliary obstruction.

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