title: Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene.
authors.affiliation: Department of Pediatrics, Saint Louis University, Pediatric Research Institute, St. Louis, MO 63110-2586, USA. tomatsus@slu.edu
authors.forename: S
authors.initials: S
authors.lastname: Tomatsu
authors.forename: T
authors.initials: T
authors.lastname: Nishioka
authors.forename: A M
authors.initials: AM
authors.lastname: Montaño
authors.forename: M A
authors.initials: MA
authors.lastname: Gutierrez
authors.forename: O S
authors.initials: OS
authors.lastname: Pena
authors.forename: K O
authors.initials: KO
authors.lastname: Orii
authors.forename: W S
authors.initials: WS
authors.lastname: Sly
authors.forename: S
authors.initials: S
authors.lastname: Yamaguchi
authors.forename: T
authors.initials: T
authors.lastname: Orii
authors.forename: E
authors.initials: E
authors.lastname: Paschke
authors.forename: S G
authors.initials: SG
authors.lastname: Kircher
authors.forename: A
authors.initials: A
authors.lastname: Noguchi
mesh_terms: D000293:Adolescent; D002648:Child; D002811:Chondroitinsulfatases / Q000235:genetics*; D018899:CpG Islands / Q000235:genetics; D004247:DNA / Q000737:chemistry / Q000235:genetics; D019175:DNA Methylation; D004252:DNA Mutational Analysis / Q000379:methods*; D005260:Female; D005820:Genetic Testing / Q000379:methods; D015894:Genome, Human; D006801:Humans; D008297:Male; D009083:Mucopolysaccharidoses / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction / Q000379:methods; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D004247:DNA; D002811:Chondroitinsulfatases; C102295:GALNS protein, human