Article
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
Human mutation - 1 Jan 2011
Ebberink Merel S, Mooijer Petra A W, Gootjes Jeannette, Koster Janet, Wanders Ronald J A, Waterham Hans R
Abstract excerpt
The autosomal recessive Zellweger syndrome spectrum (ZSS) disorders comprise a main subgroup of the peroxisome biogenesis disorders and can be caused by mutations in any of 12 different currently identified PEX genes resulting in severe multisystemic disorders. To get insight into the spectrum of PEX gene defects among ZSS disorders and to investigate if additional human PEX genes are required for functional...
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