Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis.

@article{Brul1988GeneticHI,
  title={Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis.},
  author={Stanley Brul and Andries Westerveld and Anneke Strijland and Ronald Wanders and Andr{\'e} W. Schram and Hugo S. A. Heymans and Ruud B. H. Schutgens and Han van den Bosch and Joseph M. Tager},
  journal={The Journal of clinical investigation},
  year={1988},
  volume={81 6},
  pages={1710-5}
}
We have used complementation analysis after somatic cell fusion to investigate the genetic relationships among various genetic diseases in humans in which there is a simultaneous impairment of several peroxisomal functions. The activity of acyl-coenzyme A:dihydroxyacetonephosphate acyltransferase, which is deficient in these diseases, was used as an index of complementation. In some of these diseases peroxisomes are deficient and catalase is present in the cytosol, so that the appearance of… CONTINUE READING

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