title: Mutation in Scheie syndrome (MPS IS): a G-->A transition creates new splice site in intron 5 of one IDUA allele.
authors.affiliation: Department of Biological Chemistry, School of Medicine, University of California, Los Angeles 90024-1737.
authors.forename: S M
authors.initials: SM
authors.lastname: Moskowitz
authors.forename: P T
authors.initials: PT
authors.lastname: Tieu
authors.forename: E F
authors.initials: EF
authors.lastname: Neufeld
mesh_terms: D000483:Alleles; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D006801:Humans; D007068:Iduronidase / Q000235:genetics; D007438:Introns; D008969:Molecular Sequence Data; D008059:Mucopolysaccharidosis I / Q000201:enzymology / Q000235:genetics*; D017354:Point Mutation; D012326:RNA Splicing / Q000235:genetics
chemical_list: D004247:DNA; D007068:Iduronidase