Title : alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.

Pub. Date : 1992

PMID : 1301941






1 Functional Relationships(s)
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1 Mucopolysaccharidosis type I (MPS-I) is an autosomal recessive genetic disease caused by a deficiency of the glycosidase alpha-L-iduronidase which is required for the lysosomal degradation of the glycosaminoglycans heparan sulfate and dermatan sulfate. Glycosaminoglycans alpha-L-iduronidase Homo sapiens