Mutational Analysis of the alpha-L-iduronidase gene in three Egyptian families: identification of three novel mutations and five novel polymorphisms

Mucopolysaccharidosis type I (MPS I) is an autosomal recessive disorder that results from a deficiency in alpha-L-iduronidase (IDUA), which is involved in the degradation of dermatan and heparan sulfates. MPS I has three clinical phenotypes, ranging from the severe Hurler form to the milder Scheie p...

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