Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapy

Molecular Genetics and Metabolism

Volumn 90, Issue 2, 2007, Pages 164-170

  Karageorgos, Litsa ^a   Brooks, Doug A ^a   Harmatz, Paul ^b   Ketteridge, David ^a   Pollard, Anthony ^a   Melville, Elizabeth L ^a   Parkinson Lawrence, Emma ^a   Clements, Peter R ^a   Hopwood, John J ^a  

^a Lysosomal Diseases Research Unit   (Australia)

^b CHILDREN S HOSPITAL OAKLAND   (United States)

Author keywords

ARSB; Arylsulfatase B; Maroteaux Lamy syndrome; MPS VI; Mucopolysaccharidosis type VI; Mutational analysis

Indexed keywords

GALSULFASE; GENOMIC DNA; N ACETYLGALACTOSAMINE 4 SULFATASE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; CHILD; CHO CELL; CLINICAL ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; ENZYME REPLACEMENT; EXON; FEMALE; FIBROBLAST; FIBROBLAST CULTURE; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HUMAN; INTRON; MALE; MAROTEAUX LAMY SYNDROME; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADOLESCENT; ADULT; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MUCOPOLYSACCHARIDOSIS IV; MUTATION; N-ACETYLGALACTOSAMINE-4-SULFATASE; RECOMBINANT PROTEINS;

EID: 33846252407     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.10.008     Document Type: Article

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