A common mutation for mucopolysaccharido
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Hamish S. Scott; Tom Litjens; John J. Hopwood; C. Phillip Morris
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Article
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1992
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John Wiley and Sons
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English
β 612 KB
Communicated by William S. Sly Mucopolysaccharidosis type I (MI'S-I) is an autosomal recessive genetic disease caused by a deficiency of the glycosidase a-L-iduronidase which is required for the lysosomal degradation of the glycosaminoglycans heparan sulfate and dermatan sulfate. Patients with MI'S-