A novel mutation, Y103X, and exon skipping in a patient with Hunter disease.
Bonuccelli
G
G
Laboratorio di Diagnosi Pre e Postnatale di Malattie Metaboliche, Istituto G.Gaslini.
Filocamo
M
M
Regis
S
S
Corsolini
F
F
Mazzotti
R
R
Gatti
R
R
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
D007066:Iduronate Sulfatase