Article
Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G.
American journal of human genetics - 1 Oct 2000
Muntau A C, Mayerhofer P U, Paton B C, Kammerer S, Roscher A A
Abstract excerpt
Zellweger cerebro-hepato-renal syndrome is a severe congenital disorder associated with defective peroxisomal biogenesis. At least 23 PEX genes have been reported to be essential for peroxisome biogenesis in various species, indicating the complexity of peroxisomal assembly. Cells from patients with peroxisomal biogenesis disorders have previously been shown to segregate into >/=12 complementation groups. Two...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
