Molecular defects in Sanfilippo syndrome type A.

  title={Molecular defects in Sanfilippo syndrome type A.},
  author={Lianne Blanch and Birgit Weber and X. H. Guo and Hamish S. Scott and John J. Hopwood},
  journal={Human molecular genetics},
  volume={6 5},
Sanfilippo A syndrome (mucopolysaccharidosis type IIIA, MPS-IIIA) is an autosomal recessive neurodegenerative disorder due to an enzymatic defect of the lysosomal enzyme sulphamidase (EC required for the degradation of heparan sulphate. In this study, molecular defects in the sulphamidase gene of MPS-IIIA patients were investigated in a group of 10 patients of Australian and American origin. The entire coding region of the sulphamidase gene was RT-PCR amplified and one polymorphism… CONTINUE READING


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The mucopolysaccharidoses

  • E. F. Neufeld, J. Muenzer
  • 1995

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