Expression studies of mutations underlying Taiwanese Hunter syndrome (mucopolysaccharidosis type II)

Human Genetics

Volumn 116, Issue 3, 2005, Pages 160-166

  Chang, Jui Hung ^a   Lin, Shuan Pei ^b   Lin, Shu Chuan ^a   Tseng, Kai Li ^a   Li, Chia Ling ^a   Chuang, Chih Kuang ^b   Lee Chen, Guey Jen ^a  

^a NATIONAL TAIWAN NORMAL UNIVERSITY   (Taiwan)

^b MACKAY MEMORIAL HOSPITAL   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; IDURONATE 2 SULFATASE;

ANIMAL CELL; ARTICLE; CELL STRAIN COS7; CLINICAL ARTICLE; CONFOCAL MICROSCOPY; CONTROLLED STUDY; DNA SEQUENCE; ENZYME ACTIVITY; FAMILY; FLUORESCENCE MICROSCOPY; GENE DELETION; GENE MUTATION; GENETIC TRANSFECTION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUNTER SYNDROME; IMMUNOBLOTTING; MISSENSE MUTATION; NONHUMAN; NONSENSE MUTATION; PATIENT; PRIORITY JOURNAL; PROGNOSIS; PROTEIN DEGRADATION; PROTEIN PROCESSING; PROTEIN STABILITY; SINGLE STRAND CONFORMATION POLYMORPHISM; TAIWAN;

ANIMALS; CERCOPITHECUS AETHIOPS; COS CELLS; DNA MUTATIONAL ANALYSIS; GENE EXPRESSION; HUMANS; IDURONATE SULFATASE; MUCOPOLYSACCHARIDOSIS II; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; TAIWAN; TRANSFECTION;

EID: 12944268743     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-004-1234-3     Document Type: Article

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