Article
Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.
Human mutation - 1 Jan 1995
Scott H S, Bunge S, Gal A, Clarke L A, Morris C P, Hopwood J J
Abstract excerpt
Mucopolysaccharidosis type I (MPS-I) is an autosomal recessive disease caused by mutations in the alpha-L-iduronidase (IDUA) gene. These mutations lead to a deficiency of the glycosidase alpha-L-iduronidase (IDUA), which is required for the degradation of heparan sulphate and dermatan sulphate and thus the storage of these glycosaminoglycans in the lysosome. There is a wide range of clinical phenotypes in MPS-I...
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