Identification of novel mutations and se
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Wing Yan Yik; Steven J. Steinberg; Ann B. Moser; Hugo W. Moser; Joseph G. Hacia
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Article
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2009
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John Wiley and Sons
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English
⚖ 262 KB
Peroxisome biogenesis disorders (PBD) are a heterogeneous group of autosomal recessive neurodegenerative disorders that affect multiple organ systems. Approximately 80% of PBD patients are classified in the Zellweger syndrome spectrum (PBD-ZSS). Mutations in the PEX1, PEX6, PEX10, PEX12, or PEX26 ge