title: Two new nonsense mutations (Q80X; Q389X) in patients with severe Hunter syndrome (mucopolysaccharidosis type II.)
authors.affiliation: Laboratorio Medicina III, Istituto G. Gaslini, Genoa, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Carrozzo
authors.forename: R
authors.initials: R
authors.lastname: Tonlorenzi
authors.forename: F
authors.initials: F
authors.lastname: Corsolini
authors.forename: R
authors.initials: R
authors.lastname: Gatti
mesh_terms: D001483:Base Sequence; D018388:Codon, Terminator; D005091:Exons / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D016532:Mucopolysaccharidosis II / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D018388:Codon, Terminator