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Pseudoxanthoma elasticum (PXE) is an inherited systemic disorder, characterized by dermal, ocular and cardiovascular lesions. Genetic defects of the ABCC6 (MRP6) transporter are known to cause PXE.The purpose of this study was to identify the genetic background of a PXE patient with a very early onset of the disease and severe systemic involvement.Direct sequencing of genomic DNA obtained from peripheral...
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