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

Author:

Scott Hamish S.,Blanch Lianne,Guo Xiao-Hui,Freeman Craig,Orsborn Annette,Baker Elizabeth,Sutherland Grant R.,Morris C. Phillip,Hopwood John J.

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Reference20 articles.

1. Neufeld, E.F. & Muenzer, J. The mucopolysaccharidoses. In The metabolic and Molecular Basis of Inherited Disease, 2465–2494, 7th edn. Scriver, C.R., Beaudet A.L., Sly, W.S. & Valle, D., eds (McGraw-Hill, New York, 1995).

2. van de Kamp, J.J.P., Niermeijer, M.F., von Figura, K. & Giesberts, M.A.H. Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C). Clin. Genet. 20, 152–160 (1981).

3. Whiteman, P. & Young, E. The laboratory diagnosis of Sanfilippo disease. Clin. Chem. Acta. 76, 139–147 (1977).

4. Matalon, R.M., Deanching, M., Nakamura, F. & Bloom, A. A recessivery inherited lethal disease in a Caribbean isolate - A sulfamidase deficiency. Pediatr Res. 14, 524 (1980).

5. Hopwood, J.J. Enzymes that degrade heparin and heparan sulphate. In Heparin: Chemical and Bioiogical Properties, Clinical Applications. Lane, D.W. & Lindahieds, U., eds, 190–229 (Edward Arnold, London (1989).

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