title: Two new mutations, Q473X and N487S, in a Caucasian patient with mucopolysaccharidosis IVA (Morquio disease).
authors.affiliation: Department of Pediatrics, Gifu University School of Medicine, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Tomatsu
authors.forename: S
authors.initials: S
authors.lastname: Fukuda
authors.forename: A
authors.initials: A
authors.lastname: Cooper
authors.forename: J E
authors.initials: JE
authors.lastname: Wraith
authors.forename: N
authors.initials: N
authors.lastname: Yamada
authors.forename: K
authors.initials: K
authors.lastname: Isogai
authors.forename: Z
authors.initials: Z
authors.lastname: Kato
authors.forename: K
authors.initials: K
authors.lastname: Sukegawa
authors.forename: N
authors.initials: N
authors.lastname: Kondo
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D005091:Exons; D006801:Humans; D008969:Molecular Sequence Data; D009085:Mucopolysaccharidosis IV / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D044465:White People / Q000235:genetics