Detection of four novel mutations in the iduronate-2-sulphatase gene by single-strand conformation polymorphism analysis of genomic amplicons.
Li
P
P
Laboratory of Medical Genetics, University of Alabama at Birmingham 35294, USA.
Thompson
J N
JN
D005091:Exons; D016678:Genome; D006801:Humans; D007066:Iduronate Sulfatase / Q000235:genetics*; D016532:Mucopolysaccharidosis II / Q000201:enzymology / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational
D007066:Iduronate Sulfatase