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Details on Person Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression
| Class:Id | LiteratureReference:2210382 |
|---|---|
| _displayName | Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression |
| _timestamp | 2012-04-27 16:04:37 |
| author | [Person:2210384] Crotty, PL [Person:2210385] Braun, SE [Person:392576] Anderson, RA [Person:2210374] Whitley, CB |
| created | [InstanceEdit:2210371] Jassal, B, 2012-04-27 |
| journal | Hum Mol Genet |
| pages | 755-7 |
| pubMedIdentifier | 1284597 |
| title | Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression |
| volume | 1 |
| year | 1992 |
| (literatureReference) | [FailedReaction:2262743] Defective IDS does not hydrolyse dermatan sulfate (Chebi:63517 chain) [Homo sapiens] [FailedReaction:9036046] Defective IDS does not hydrolyse Heparan sulfate chain(5) [Homo sapiens] |
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No pathways have been reviewed or authored by Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression (2210382)
