Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease)

Journal of Inherited Metabolic Disease

Volumn 21, Issue 1, 1998, Pages 60-70

  Isogai, K ^a   Sukegawa, K ^a   Tomatsu, S ^a   Fukao, T ^a   Song, X Q ^a   Yamada, Y ^a   Fukuda, S ^a   Orii, T ^a,b   Kondo, N ^a  

^a GIFU UNIVERSITY   (Japan)

^b CHUBU GAKUIN UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

IDURONATE 2 SULFATASE; MESSENGER RNA;

ARTICLE; BINDING SITE; CLINICAL ARTICLE; CODON; CONSENSUS SEQUENCE; DISEASE SEVERITY; ETHNIC GROUP; EXON; GENE MUTATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENOTYPE; HUMAN; HUNTER SYNDROME; PHENOTYPE; POINT MUTATION; RACE DIFFERENCE;

BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; HUMANS; IDURONATE SULFATASE; JAPAN; MOLECULAR SEQUENCE DATA; MUCOPOLYSACCHARIDOSIS II; MUTAGENESIS, INSERTIONAL; POINT MUTATION; SEQUENCE DELETION;

EID: 0031963927     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005363414792     Document Type: Article

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