Metachromatic leucodystrophy in three families from Nova Scotia, Canada: a recurring mutation in the arylsulphatase A gene.

@article{CoulterMackie1997MetachromaticLI,
  title={Metachromatic leucodystrophy in three families from Nova Scotia, Canada: a recurring mutation in the arylsulphatase A gene.},
  author={M. Coulter-Mackie and L. Gagnier and M. Beis and D. Applegarth and D. Cole and K. Gordon and M. Ludman},
  journal={Journal of Medical Genetics},
  year={1997},
  volume={34},
  pages={493 - 498}
}
Metachromatic leucodystrophy (MLD) is a lysosomal storage disease resulting from a deficiency of arylsulphatase A. We have identified a child with infantile onset MLD who is homozygous for an A212V mutation, a mutation previously reported but not further characterised. We have introduced this mutation into an arylsulphatase A expression vector by site directed mutagenesis. Transient expression of this mutant plasmid in COS cells yields very low levels of arylsulphatase A activity consistent… Expand
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