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

Nikolaj S Nytofte, Maria A Serrano, Maria J Monte, Ester Gonzalez-Sanchez, Zeynep Tumer, Karin Ladefoged, Oscar Briz, Jose J G Marin

35 Citationer (Scopus)

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Keyphrases

Biochemistry, Genetics and Molecular Biology

Medicine and Dentistry