title: Molecular basis of mucopolysaccharidosis type II in Portugal: identification of four novel mutations.
authors.forename: I
authors.initials: I
authors.lastname: Moreira da Silva
authors.forename: R
authors.initials: R
authors.lastname: Froissart
authors.forename: H
authors.initials: H
authors.lastname: Marques dos Santos
authors.forename: C
authors.initials: C
authors.lastname: Caseiro
authors.forename: I
authors.initials: I
authors.lastname: Maire
authors.forename: D
authors.initials: D
authors.lastname: Bozon
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D015139:Blotting, Southern; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007066:Iduronate Sulfatase / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D016532:Mucopolysaccharidosis II / Q000201:enzymology / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011174:Portugal; D022821:RNA Splice Sites / Q000235:genetics
chemical_list: D022821:RNA Splice Sites; D007066:Iduronate Sulfatase