Pseudoxantoma Elasticum: A clinical, histopathological and molecular updateMutations in ABCC6 cause pseudoxanthoma elasticumIntegrated genetic and physical map of the 1q31-->q31.1 region, encompassing the RP12 locus, the F13B and HF1 genes, and the EEF1AL11 and RPL30 pseudogenesABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticumAnalysis of the frequent R1141 X mutation in the ABCC6 gene in Pseudoxanthoma Elasticum (PXE)Retinitis Pigmentosa; defined from a molecular point of viewAutosomal recessive retinitis pigmentosa with preserved para-arteriolar pigment epithelium. First report on familial occurrence
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S. van Soest