UvA-DARE ( Digital Academic Repository ) Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX 16 gene

Abstract

Background Zellweger syndrome spectrum disorders are caused by mutations in any of at least 12 different PEX genes. This includes PEX16, which encodes an integral peroxisomal membrane protein involved in peroxisomal membrane assembly. PEX16-defective patients have been reported to have a severe clinical presentation. Fibroblasts from these patients… (More)

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