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
Structural and clinical implications of amino acid substitutions in N-acetylgalactosamine-4-sulfatase: insight into mucopolysaccharidosis type VI.
Saito S et al.
Molecular Genetics and Metabolism, 2008
Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase.
Litjens T et al.
Human Mutation, 2001
Maroteaux-lamy syndrome: five novel mutations and their structural localization.
Villani GR et al.
Biochimica Et Biophysica Acta, 1999
Analysis of N-acetylgalactosamine-4-sulfatase protein and kinetics in mucopolysaccharidosis type VI patients.
Brooks DA et al.
American Journal of Human Genetics, 1991
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