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Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients
Human Mutation, 11/02/09
Ebberink MS et al. – The authors analyzed the PEX6 genes of 75 patients assigned to the PEX6 complementation group. They identified a total of 77 different mutations of which 47 mutations have not been reported previously, and 14 polymorphic variants.
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