Title : alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients.

Pub. Date : 2004 Apr 30

PMID : 15081804






1 Functional Relationships(s)
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1 A deficiency in alpha-L-iduronidase results in the lysosomal accumulation and urinary secretion of partially degraded glycosaminoglycans and is the cause of the lysosomal storage disorder mucopolysaccharidosis type I (MPS I; Hurler and Scheie syndromes; McKusick 25280). Glycosaminoglycans alpha-L-iduronidase Homo sapiens