TY  - GEN
AU  - Kato,Tomomi
AU  - Kato,Zenichiro
AU  - Kuratsubo,Izumi
AU  - Tanaka,Noboru
AU  - Ishigami,Tabito
AU  - Kajihara,Jun-Ichi
AU  - Sukegawa-Hayasaka,Kazuko
AU  - Orii,Koji
AU  - Isogai,Koji
AU  - Fukao,Toshiyuki
AU  - Shimozawa,Nobuyuki
AU  - Orii,Tadao
AU  - Kondo,Naomi
AU  - Suzuki,Yasuyuki
TI  - Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II
SN  - 1434-5161
PY  - 2005///1103
KW  - Adolescent
KW  - Adult
KW  - Alternative Splicing
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - Binding Sites
KW  - Child
KW  - Child, Preschool
KW  - Codon, Nonsense
KW  - DNA Mutational Analysis
KW  - Frameshift Mutation
KW  - Humans
KW  - Iduronate Sulfatase
KW  - chemistry
KW  - Japan
KW  - Models, Molecular
KW  - Mucopolysaccharidosis II
KW  - genetics
KW  - Mutation
KW  - Mutation, Missense
KW  - Protein Structure, Tertiary
KW  - Sequence Deletion
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1007/s10038-005-0266-4
ER  -