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 syn
Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders
✍ Scribed by Portsteffen, Herma; Beyer, Andreas; Becker, Elisabeth; Epplen, Cornelia; Pawlak, André; Kunau, Wolf-H; Dodt, Gabriele
- Book ID
- 109918950
- Publisher
- Nature Publishing Group
- Year
- 1997
- Tongue
- English
- Weight
- 724 KB
- Volume
- 17
- Category
- Article
- ISSN
- 1061-4036
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## Communicated by Jean-Louis Mandel Peroxisome biogenesis disorders (PBD) are lethal hereditary diseases caused by abnormalities in the biogenesis of peroxisomes. At present, 12 different complementation groups have been identified and to date, all genes responsible for each of these complementat
The peroxisome biogenesis disorders (PBDs) are a group of neuronal migration/neurodegenerative disorders that arise from defects in PEX genes. A major subgroup of the PBDs includes Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD). These three disorder