Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression.
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Crotty PL, Braun SE, Anderson RA, Whitley CB
Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression.
Hum Mol Genet. 1992 Dec;1(9):755-7.
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- 1284597 [ View in PubMed]
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