Molecular analysis of 40 Italian patient
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Mirella Filocamo; Gloria Bonuccelli; Fabio Corsolini; Raffaella Mazzotti; Robert
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Article
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2001
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John Wiley and Sons
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English
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Mucopolysaccharidosis type II (MPS2, or Hunter syndrome), rare X-linked lysosomal storage disorder, results from deleterious mutations in the iduronate-2-sulfatase (IDS) gene. We report here the mutational analysis of a total of 40 unrelated Italian MPS II patients ranging from mild to severe phenot