Mucopolysaccharidosis type II: identification of six novel mutations in Italian patients.
Villani
G R
GR
Dipartimento di Biochimica, Biotecnologie Mediche, Medical School, University of Naples, Federico II, Italy.
Balzano
N
N
Grosso
M
M
Salvatore
F
F
Izzo
P
P
Di Natale
P
P
D015139:Blotting, Southern; D002478:Cells, Cultured; D004252:DNA Mutational Analysis; D017931:DNA Primers; D004591:Electrophoresis, Polyacrylamide Gel; D005091:Exons / Q000235:genetics; D006801:Humans; D007066:Iduronate Sulfatase / Q000235:genetics*; D007558:Italy; D016532:Mucopolysaccharidosis II / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational
D017931:DNA Primers; D007066:Iduronate Sulfatase