Associated Papers
Fabry disease due to D313Y and novel GLA mutations.
Koulousios K et al.
Bmj Open, 2017
28988177 (PubMed )
Supplement: bmjopen-2017-017098.draft_revisions.pdf
Treatment-emergent mutations in NAEβ confer resistance to the NEDD8-activating enzyme inhibitor MLN4924.
Milhollen MA et al.
Cancer Cell, 2012
Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapy.
Karageorgos L et al.
Molecular Genetics and Metabolism, 2007
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