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Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency
Schlotawa, Lars, Radhakrishnan, Karthikeyan, Baumgartner, Matthias, Schmid, Regula, Schmidt, Bernhard, Dierks, Thomas, Gärtner, JuttaVolume:
21
Language:
english
Journal:
European Journal of Human Genetics
DOI:
10.1038/ejhg.2012.291
Date:
September, 2013
File:
PDF, 430 KB
english, 2013