Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression.
Crotty
P L
PL
Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis 55455.
Braun
S E
SE
Anderson
R A
RA
Whitley
C B
CB
D001483:Base Sequence; D005966:Glucuronidase / Q000235:genetics; D006801:Humans; D007066:Iduronate Sulfatase / Q000235:genetics*; D007962:Leukocytes / Q000201:enzymology; D008969:Molecular Sequence Data; D016532:Mucopolysaccharidosis II / Q000201:enzymology / Q000235:genetics* / Q000503:physiopathology; D016296:Mutagenesis; D009154:Mutation; D009838:Oligodeoxyribonucleotides; D016133:Polymerase Chain Reaction; D012313:RNA / Q000097:blood / Q000235:genetics / Q000302:isolation & purification; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D015183:Restriction Mapping
D009838:Oligodeoxyribonucleotides; D012333:RNA, Messenger; D012313:RNA; D007066:Iduronate Sulfatase; D005966:Glucuronidase