Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency.
| Autor: | Schlotawa, Lars1, Radhakrishnan, Karthikeyan2, Baumgartner, Matthias3, Schmid, Regula4, Schmidt, Bernhard5, Dierks, Thomas6, Gärtner, Jutta1 |
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| Zdroj: | European Journal of Human Genetics. Sep2013, Vol. 21 Issue 9, p1020-1023. 4p. 1 Color Photograph, 2 Charts. |
| Databáze: | Academic Search Ultimate |
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