Identification of a novel arylsulfatase B gene mutation in three unrelated Iranian mucopolysaccharidosis type-VI patients with different phenotype severity
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Background: Mucopolysaccharidosis type-VI (MPS-VI), which is inherited as an autosomal recessive trait, results from the deficiency of N-acetylgalactosamine 4-sulfatase (arylsulfatase B) activity and the lysosomal accumulation of... ...
