PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders.

@article{Crane2005PEX1MI,
  title={PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders.},
  author={Denis I. Crane and Megan A Maxwell and Barbara C. Paton},
  journal={Human mutation},
  year={2005},
  volume={26 3},
  pages={
          167-75
        }
}
Diseases of the Zellweger spectrum represent a major subgroup of the peroxisome biogenesis disorders, a group of autosomal-recessive diseases that are characterized by widespread tissue pathology, including neurodegeneration. The Zellweger spectrum represents a clinical continuum, with Zellweger syndrome (ZS) having the most severe phenotype, and neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) having progressively milder phenotypes. Mutations in the PEX1 gene, which… CONTINUE READING

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