Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease

2017 | journal article. A publication with affiliation to the University of Göttingen.

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​Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease​
Jaszczuk, I.; Schlotawa, L.; Dierks, T.; Ohlenbusch, A.; Koppenhöfer, D.; Babicz, M. & Lejman, M. et al.​ (2017) 
Molecular Genetics and Metabolism121(3) pp. 252​-258​.​ DOI: https://doi.org/10.1016/j.ymgme.2017.05.013 

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Authors
Jaszczuk, Ilona; Schlotawa, Lars; Dierks, Thomas; Ohlenbusch, Andreas; Koppenhöfer, Dominique; Babicz, Mariusz; Lejman, Monika; Radhakrishnan, Karthikeyan; Ługowska, Agnieszka
Issue Date
2017
Journal
Molecular Genetics and Metabolism 
ISSN
1096-7192
Language
English

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