The Mutation p.Ser298Pro in the sulphami
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Ann Meyer; Kai Kossow; Andreas Gal; Cordula Steglich; Chris MΓΌhlhausen; Kurt Ull
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Article
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2008
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John Wiley and Sons
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English
β 127 KB
## Communicated by Elizabeth F. Neufeld Mucopolysaccharidosis type IIIA (MPS IIIA, Sanfilippo A syndrome) is caused by mutations in the N-sulfoglucosamine sulfohydrolase (SGSH) gene and the resulting defective lysosomal degradation of the glycosaminoglycan heparan sulfate. The onset and progressio