Article
Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders.
Journal of medical genetics - 1 Oct 1999
Shimozawa N, Imamura A, Zhang Z, Suzuki Y, Orii T, Tsukamoto T, Osumi T, Fujiki Y, Wanders R J, Besley G, Kondo N
Abstract excerpt
Peroxisome biogenesis disorders (PBD) comprise three phenotypes including Zellweger syndrome (ZS) (the most severe), neonatal adrenoleucodystrophy, and infantile Refsum disease (IRD) (the most mild), and can be classified into at least 12 genetic complementation groups, which are not predictive of the phenotypes. Several pathogenic genes for PBD groups have been identified, but the relationship between the...
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