Molecular basis of mucopolysaccharidosis type II in Portugal: identification of four novel mutations.
Moreira da Silva
I
I
Froissart
R
R
Marques dos Santos
H
H
Caseiro
C
C
Maire
I
I
Bozon
D
D
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
D022821:RNA Splice Sites; D007066:Iduronate Sulfatase