Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders

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 t...

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Bibliografische gegevens
Hoofdauteurs: Shimozawa, N., Imamura, A., Zhang, Z., Suzuki, Y., Orii, T., Tsukamoto, T., Osumi, T., Fujiki, Y., Wanders, R., Besley, G., Kondo, N.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BMJ Group 1999
Onderwerpen:
Short Report
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734244/
https://ncbi.nlm.nih.gov/pubmed/10528859
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