Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients

Molecular Genetics and Metabolism

Volumn 78, Issue 1, 2003, Pages 37-43

  Matte, Ursula ^a,e   Yogalingam, Gouri ^e   Brooks, Doug ^e   Leistner, Sandra ^a   Schwartz, Ida ^a   Lima, Luciane ^a   Norato, Denise Y ^b   Brum, Jaime M ^c   Beesley, Clare ^d   Winchester, Bryan ^d   Giugliani, Roberto ^a   Hopwood, John J ^e  

^a Servico Genet Medica Do Hosp C   (Brazil)

^b UNIVERSITY OF CAMPINAS   (Brazil)

^c SARAH NETWORK OF REHABILITATION HOSPITALS   (Brazil)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e WOMEN S AND CHILDREN S HOSPITAL   (Australia)

Author keywords

L Iduronidase; Expression studies; Hurler syndrome; Lysosomal storage disorders; Mucopolysaccharidosis type I; Scheie syndrome

Indexed keywords

LEVO IDURONIDASE;

ARTICLE; BRAZIL; CHO CELL; CONTROLLED STUDY; CORRELATION ANALYSIS; DISEASE ASSOCIATION; ENZYME ACTIVITY; GENE IDENTIFICATION; GENE MUTATION; HUMAN; HURLER SYNDROME; LYSOSOME STORAGE DISEASE; MUTANT; PHENOTYPE; PRIORITY JOURNAL;

ANIMALS; BLOTTING, WESTERN; CHO CELLS; CRICETINAE; DNA; DNA MUTATIONAL ANALYSIS; GENE EXPRESSION REGULATION, ENZYMOLOGIC; HUMANS; IDURONIDASE; MUCOPOLYSACCHARIDOSIS I; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; TRANSFECTION;

EID: 0347297299     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1096-7192(02)00200-7     Document Type: Article

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