title: A novel splice site mutation in intron 1 of the GALNS gene in a Japanese patient with mucopolysaccharidosis IVA.
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: T
authors.initials: T
authors.lastname: Ogawa
authors.forename: Z
authors.initials: Z
authors.lastname: Kato
authors.forename: K
authors.initials: K
authors.lastname: Isogai
authors.forename: N
authors.initials: N
authors.lastname: Kondo
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
authors.forename: N
authors.initials: N
authors.lastname: Shimozawa
authors.forename: K
authors.initials: K
authors.lastname: Sukegawa
authors.forename: T
authors.initials: T
authors.lastname: Orii
mesh_terms: D001483:Base Sequence; D002811:Chondroitinsulfatases / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics*; D007564:Japan; D008969:Molecular Sequence Data; D009085:Mucopolysaccharidosis IV / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: D002811:Chondroitinsulfatases