A homozygous nonsense mutation (c.214C->A) in the biliverdin reductase alpha gene (BLVRA) results in accumulation of biliverdin during episodes of cholestasis
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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.
| Originalsprog | Engelsk |
|---|---|
| Tidsskrift | Journal of Medical Genetics |
| Vol/bind | 48 |
| Udgave nummer | 4 |
| Sider (fra-til) | 219-25 |
| Antal sider | 7 |
| ISSN | 1468-6244 |
| DOI | |
| Status | Udgivet - 1 apr. 2011 |
ID: 33496417