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Article

Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts.

Journal of molecular medicine (Berlin, Germany) - 1 Aug 2006

Lualdi Susanna, Pittis Maria G, Regis Stefano, Parini Rossella, Allegri Anna E, Furlan Francesca, Bembi Bruno, Filocamo Mirella

Abstract excerpt

Mutations in the gene encoding the enzyme iduronate-2-sulfatase (IDS) were reported as the cause of the X-linked recessive lysosomal disease, mucopolysaccharidosis II (MPS II). Amongst the different mutations, it emerges that nearly 10% are nucleotide substitutions causing splicing mutations. We now report the molecular characterisation of three MPS II patients with multiple aberrant transcripts due to three...

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PMID: 16699754
DOI: 10.1007/s00109-006-0057-1

Genes

IDS

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts.PMID 16699754Read ↗

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