Two new nonsense mutations (Q80X; Q389X) in patients with severe Hunter syndrome (mucopolysaccharidosis type II.)
Carrozzo
R
R
Laboratorio Medicina III, Istituto G. Gaslini, Genoa, Italy.
Tonlorenzi
R
R
Corsolini
F
F
Gatti
R
R
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
D018388:Codon, Terminator