Kato, Tomomi

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