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Disorders of iron metabolism account for some of the most common human diseases. Cellular iron homeostasis is maintained by iron regulatory proteins (IRP)-1 and 2 through their binding to cis-regulatory iron-responsive elements (IREs) in target mRNAs. Mouse models with IRP deficiency have yielded valuable insights into iron biology, but the physiological consequences of gain of IRP function in mammalian...
Ein beschwerdefreies Geschwisterpaar italienischer Abstammung wurde zum Ausschluss einer Hmochromatose bei erhhten Serumferritinspiegeln vorgestellt. Bei beiden war bereits eine Kataraktoperation durchgefhrt worden, wie auch bei der Mutter. Die augenrztliche Untersuchung ergab auch bei 2 der 5 Kindern der betroffenen Geschwister eine Katarakt. Krperliche Untersuchung und Laborbefund waren bis auf...
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