title: Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II: discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene.
authors.affiliation: Department of Pediatrics, University of Minnesota Medical School, Minneapolis 55455.
authors.forename: C B
authors.initials: CB
authors.lastname: Whitley
authors.forename: R A
authors.initials: RA
authors.lastname: Anderson
authors.forename: E L
authors.initials: EL
authors.lastname: Aronovich
authors.forename: P L
authors.initials: PL
authors.lastname: Crotty
authors.forename: K
authors.initials: K
authors.lastname: Anyane-Yeboa
authors.forename: D
authors.initials: D
authors.lastname: Russo
authors.forename: D
authors.initials: D
authors.lastname: Warburton
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D005838:Genotype; D006801:Humans; D007066:Iduronate Sulfatase / Q000235:genetics*; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D016532:Mucopolysaccharidosis II / Q000201:enzymology / Q000235:genetics*; D010641:Phenotype; D017354:Point Mutation
chemical_list: D004247:DNA; D007066:Iduronate Sulfatase