title: Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations.
authors.forename: C E
authors.initials: CE
authors.lastname: Beesley
authors.forename: E P
authors.initials: EP
authors.lastname: Young
authors.forename: A
authors.initials: A
authors.lastname: Vellodi
authors.forename: B G
authors.initials: BG
authors.lastname: Winchester
mesh_terms: D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005838:Genotype; D006801:Humans; D006867:Hydrolases / Q000235:genetics*; D009084:Mucopolysaccharidosis III / Q000201:enzymology* / Q000235:genetics / Q000473:pathology; D016254:Mutagenesis, Insertional; D009154:Mutation; D020125:Mutation, Missense; D018807:Polymorphism, Single-Stranded Conformational; D017384:Sequence Deletion
chemical_list: D004247:DNA; D006867:Hydrolases; C022708:N-sulfoglucosamine sulfohydrolase