Molecular investigations of a novel iduronate-2-sulfatase mutant in a Chinese patient

Clinica Chimica Acta

Volumn 392, Issue 1-2, 2008, Pages 8-10

  Lau, Kin Chong ^a   Lam, Ching Wan ^a  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

Iduronate 2 sulfatase mutant; Novel missense mutation; Transfection based transient expression

Indexed keywords

ARGININE; IDURONATE 2 SULFATASE; LEUCINE; MESSENGER RNA; PROLINE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; CASE REPORT; CHINESE; CONTROLLED STUDY; ENZYME ACTIVITY; HUMAN; HUNTER SYNDROME; HYDROPHILICITY; HYDROPHOBICITY; LYSOSOME STORAGE DISEASE; MISSENSE MUTATION; MOLECULAR BIOLOGY; MUTAGENESIS; NONHUMAN; NUCLEOTIDE SEQUENCE; PREDICTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; SINGLE NUCLEOTIDE POLYMORPHISM; WESTERN BLOTTING; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; CELL LINE; CHILD, PRESCHOOL; CHINA; EXONS; HUMANS; IDURONATE SULFATASE; MUCOPOLYSACCHARIDOSIS II; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; POINT MUTATION;

EID: 42749090539     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2008.02.009     Document Type: Article

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