Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II

Journal of Human Genetics

Volumn 50, Issue 8, 2005, Pages 395-402

  Kato, Tomomi ^a,b   Kato, Zenichiro ^a   Kuratsubo, Izumi ^a   Tanaka, Noboru ^c   Ishigami, Tabito ^c   Kajihara, Jun Ichi ^c   Sukegawa Hayasaka, Kazuko ^a   Orii, Koji ^a   Isogai, Koji ^a   Fukao, Toshiyuki ^a   Shimozawa, Nobuyuki ^a   Orii, Tadao ^d   Kondo, Naomi ^a   Suzuki, Yasuyuki ^a,b  

^a GIFU UNIVERSITY   (Japan)

^b GIFU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c Japan Chem Res Pharmaceut Co L   (Japan)

^d CHUBU GAKUIN UNIVERSITY   (Japan)

Author keywords

Hunter disease; Iduronate 2 sulfatase; Mucopolysaccharidosis type II; Mutation; Phenotype genotype relationship; Protein structure

Indexed keywords

ADOLESCENT; ADULT; AMINO ACID ANALYSIS; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; GENE IDENTIFICATION; GENE MUTATION; GENE STRUCTURE; GENOTYPE; HUMAN; HUNTER SYNDROME; HYDROPHOBICITY; JAPAN; MISSENSE MUTATION; PHENOTYPE; SEQUENCE HOMOLOGY;

ADOLESCENT; ADULT; ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; BASE SEQUENCE; BINDING SITES; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; FRAMESHIFT MUTATION; HUMANS; IDURONATE SULFATASE; JAPAN; MODELS, MOLECULAR; MUCOPOLYSACCHARIDOSIS II; MUTATION; MUTATION, MISSENSE; PROTEIN STRUCTURE, TERTIARY; SEQUENCE DELETION;

EID: 25444454360     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-005-0266-4     Document Type: Article

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