Article
Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutations.
Human mutation - 1 Jan 1994
Clarke L A, Nelson P V, Warrington C L, Morris C P, Hopwood J J, Scott H S
Abstract excerpt
Mucopolysaccharidosis type I (MPS I) is an autosomal recessive genetic disorder caused by deficiency of the lysosomal glycosidase alpha-L-iduronidase. Patients with this disorder present with varied clinical phenotypes ranging from early severe onset of disease and death in early childhood to mild manifestations compatible with adult life. An understanding of the molecular basis of iduronidase deficiency and its...
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