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1 Ergebnisse
1
SUMF1 mutations affecting stability and activity of formylg..:
Dierks, Thomas
;
Schlotawa, Lars
;
Ennemann, Eva Charlotte
...
info:eu-repo/semantics/altIdentifier/doi/10.1038/ejhg.2010.219. , 2011
Link:
https://hal.archives-ouvertes.fr/hal-00608022
RT Journal T1
SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in Multiple Sulfatase Deficiency
UL https://suche.suub.uni-bremen.de/peid=base-ftccsdartic:oai:HAL:hal-00608022v1&Exemplar=1&LAN=DE A1 Dierks, Thomas A1 Schlotawa, Lars A1 Ennemann, Eva Charlotte A1 Radhakrishnan, Karthikeyan A1 Schmidt, Bernhard A1 Chakrapani, Anupam A1 Christen, Hans-Jürgen A1 Moser, Hugo A1 Steinmann, Beat A1 Gärtner, Jutta PB HAL CCSD; Nature Publishing Group YR 2011 K1 Formylglycine-Generating Enzyme K1 lysosomal storage disorders K1 Multiple Sulfatase Deficiency JF info:eu-repo/semantics/altIdentifier/doi/10.1038/ejhg.2010.219 LK http://dx.doi.org/https://hal.archives-ouvertes.fr/hal-00608022 DO https://hal.archives-ouvertes.fr/hal-00608022 SF ELIB - SuUB Bremen
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