Article
A mouse model of β-thalassemia shows a liver-specific down-regulation of Abcc6 expression.
The American journal of pathology - 1 Feb 2011
Martin Ludovic, Douet Vanessa, VanWart Christopher M, Heller Matthew B, Le Saux Olivier
Abstract excerpt
β-Thalassemia and pseudoxanthoma elasticum (PXE) are distinct genetic disorders. Yet, a dystrophic mineralization phenotype similar to PXE has frequently been associated with β-thalassemia or sickle cell anemia patients of Mediterranean descent. These calcifications are clinically and structurally identical to inherited PXE. As we previously excluded the presence of PXE-causing mutations in the ABCC6 gene of...
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