Article
Genotype-phenotype correlations in disorders of peroxisome biogenesis.
Molecular genetics and metabolism - 1 Oct 1999
Moser H W
Abstract excerpt
Genetically determined human peroxisomal disorders are subdivided into two major categories: disorders of peroxisome biogenesis (PBD), in which the organelle is not formed normally, and those that involve a single peroxisomal enzyme. Twelve PBD have been identified, and the molecular defects have been defined in 10. All involve defects in the import of proteins into the organelle. Factors required for this import...
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