Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome

@article{Scott1995CloningOT,
  title={Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome},
  author={Hamish S. Scott and Lianne Blanch and Xiao-hui Guo and Craig Freeman and Annette Orsborn and Elizabeth G. Baker and Grant R. Sutherland and C Phillip Morris and John J. Hopwood},
  journal={Nature Genetics},
  year={1995},
  volume={11},
  pages={465-467}
}
Sanfilippo A syndrome is one of four recognised San-filippo sub-types (A, B, C and D) that result from deficiencies of different enzymes involved in the lysosomal degradation of heparan sulphate; patients suffer from severe neurological disorders. The Sanfilippo syndrome sub-types are also known as mucopolysaccharidosis (MRS) type III (MPS-IIIA, B, C and D), and are part of the large group of lysosomal storage disorders. Each of the MPS-III types is inherited as an autosomal recessive disorder… CONTINUE READING
Highly Cited
This paper has 36 citations. REVIEW CITATIONS

Citations

Publications citing this paper.
Showing 1-10 of 19 extracted citations