The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1537, Issue 3, 2001, Pages 233-238

  Bonuccelli, Gloria ^a   Di Natale, Paola ^b   Corsolini, Fabio ^a   Villani, Guglielmo ^b   Regis, Stefano ^a   Filocamo, Mirella ^a  

^a G GASLINI INSTITUTE   (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

COS cell; Hunter syndrome; Iduronate 2 sulfatase; Mucopolysaccharidosis type II; Transient expression; Western blot

Indexed keywords

IDURONATE 2 SULFATASE;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; CASE REPORT; CONTROLLED STUDY; ENZYME ACTIVITY; GENE DELETION; GENOTYPE; HUMAN; HUNTER SYNDROME; MISSENSE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROGNOSIS; PROTEIN EXPRESSION;

ANIMALS; COS CELLS; DNA, COMPLEMENTARY; HUMANS; IDURONATE SULFATASE; IMMUNOBLOTTING; MUCOPOLYSACCHARIDOSIS II; MUTAGENESIS, SITE-DIRECTED; MUTATION; TRANSFECTION;

EID: 0035969541     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0925-4439(01)00075-8     Document Type: Article

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