Literature summary for 3.1.6.13 extracted from

Lualdi, S.; Pittis, M.G.; Regis, S.; Parini, R.; Allegri, A.E.; Furlan, F.; Bembi, B.; Filocamo, M.
Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts (2006), J. Mol. Med., 84, 692-700.

Search for more literature for 3.1.6.13

Application

Application	Comment	Organism
medicine	characterization of three mucopolysaccharidosis II patients with multiple aberrant transcripts due to three different point mutations. Mutations lead to production of only abnormally spliced transcripts (c.418+1G>C) or to abnormally spliced transcripts in addition to correctly spliced transcripts bearing the respective missence mutation (c.419G>T, and c.245C>T)	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
additional information	characterization of three mucopolysaccharidosis II patients with multiple aberrant transcripts due to three different point mutations. Mutations lead to production of only abnormally spliced transcripts (c.418+1G>C) or to abnormally spliced transcripts in addition to correctly spliced transcripts bearing the respective missence mutation (c.419G>T, and c.245C>T)	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	patients with mucopolysaccharidosis II	-

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Release 2023.1 (January 2023)