Article
[Human peroxisome-deficient disorders and pathogenic gene].
Rinsho shinkeigaku = Clinical neurology - 1 Dec 1994
Fujiki Y
Abstract excerpt
Peroxisome is a model organelle to investigate the mechanism of protein translocation and organelle assembly. Human autosomal recessive peroxisomal disorders are of clinical consequence and a model system to study the biogenesis and physiological significance of peroxisomes. In patients with gene...
Topics
- Adrenoleukodystrophy
- Amino Acid Sequence
- Animals
- CHO Cells
- Cricetinae
- Cricetulus
- Humans
- Infant, Newborn
- Membrane Proteins
- Microbodies
- Molecular Sequence Data
- Mutation
- Peroxisomal Biogenesis Factor 2
- Rats
- Refsum Disease
- Zellweger Syndrome