title: A novel mutation, Y103X, and exon skipping in a patient with Hunter disease.
authors.affiliation: Laboratorio di Diagnosi Pre e Postnatale di Malattie Metaboliche, Istituto G.Gaslini.
authors.forename: G
authors.initials: G
authors.lastname: Bonuccelli
authors.forename: M
authors.initials: M
authors.lastname: Filocamo
authors.forename: S
authors.initials: S
authors.lastname: Regis
authors.forename: F
authors.initials: F
authors.lastname: Corsolini
authors.forename: R
authors.initials: R
authors.lastname: Mazzotti
authors.forename: R
authors.initials: R
authors.lastname: Gatti
mesh_terms: D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D018095:Germ-Line Mutation / Q000235:genetics; D006801:Humans; D007066:Iduronate Sulfatase / Q000235:genetics; D016532:Mucopolysaccharidosis II / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D014960:X Chromosome / Q000235:genetics
chemical_list: D007066:Iduronate Sulfatase