Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II. [electronic resource]
- Journal of human genetics 2005
- 395-402 p. digital
Publication Type: Journal Article
1434-5161
10.1007/s10038-005-0266-4 doi
Adolescent Adult Alternative Splicing Amino Acid Sequence Base Sequence Binding Sites Child Child, Preschool Codon, Nonsense DNA Mutational Analysis Frameshift Mutation Humans Iduronate Sulfatase--chemistry Japan Models, Molecular Mucopolysaccharidosis II--genetics Mutation Mutation, Missense Protein Structure, Tertiary Sequence Deletion