Molecular basis of neurological dysfunction coupled with haemolytic anaemia in human glucose-6-phosphate isomerase (GPI) deficiency

@article{Kugler1998MolecularBO,
  title={Molecular basis of neurological dysfunction coupled with haemolytic anaemia in human glucose-6-phosphate isomerase (GPI) deficiency},
  author={W. Kugler and K. Breme and P. Laspe and H. Muirhead and C. Davies and H. Winkler and W. Schr{\"o}ter and M. Lakomek},
  journal={Human Genetics},
  year={1998},
  volume={103},
  pages={450-454}
}
Glucose-6-phosphate isomerase (GPI) deficiency, an autosomal recessive genetic disorder with the typical manifestation of nonspherocytic haemolytic anaemia, can be associated in some cases with neurological impairment. GPI has been found to be identical to neuroleukin (NLK), which has neurotrophic and lymphokine properties. To focus on the possible effects of GPI mutations on the central nervous system through an effect on neuroleukin activity, we analysed DNA isolated from two patients with… Expand
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