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Human Genome and Diseases:¶Cellular and molecular aspects of Zellweger syndrome and other peroxisome biogenesis disorders

✍ Scribed by U. Brosius; J. Gärtner


Publisher
Springer
Year
2002
Tongue
English
Weight
256 KB
Volume
59
Category
Article
ISSN
1420-682X

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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