Associated Papers
Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene.
Tomanin R et al.
Human Mutation, 2018
30118150 (PubMed )
Supplement: HUMU-39-1788-s001.pdf
Database of the clinical phenotypes, genotypes and mutant arylsulfatase B structures in mucopolysaccharidosis type VI.
Saito S et al.
Journal of Human Genetics, 2012
Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene.
Garrido E et al.
Molecular Genetics and Metabolism, 2008
Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations.
Garrido E et al.
Molecular Genetics and Metabolism, 0
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