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1 Ergebnisse
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Biochemical Characterization of the GBA2 c.1780G>C Missense..:
Malekkou, Anna
;
Samarani, Maura
;
Drousiotou, Anthi
...
info:eu-repo/semantics/altIdentifier/pmid/30308956. , 2018
Link:
http://hdl.handle.net/2434/624845
RT Journal T1
Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia
UL https://suche.suub.uni-bremen.de/peid=base-ftunivmilanoair:oai:air.unimi.it:2434_624845&Exemplar=1&LAN=DE A1 Malekkou, Anna A1 Samarani, Maura A1 Drousiotou, Anthi A1 Votsi, Christina A1 Sonnino, Sandro A1 Pantzaris, Marios A1 Chiricozzi, Elena A1 Zamba-Papanicolaou, Eleni A1 Aureli, Massimo A1 Loberto, Nicoletta A1 Christodoulou, Kyproula PB MDPI YR 2018 K1 GBA2 K1 glucosylceramide K1 lymphoblastoid cell line K1 non-lysosomal β-glucosylceramidase K1 plasma membrane K1 spastic ataxia K1 β-glucocerebrosidase K1 Allele K1 Biomarker K1 Cell Line K1 Enzyme Activation K1 Glucosylceramidase K1 Human K1 Intellectual Disability K1 Lymphocyte K1 Muscle Spasticity K1 Optic Atrophy K1 Spinocerebellar Ataxia K1 beta-Glucosidase K1 Mutation K1 Missense K1 Settore BIO/10 - Biochimica JF info:eu-repo/semantics/altIdentifier/pmid/30308956 LK http://hdl.handle.net/2434/624845 DO http://hdl.handle.net/2434/624845 SF ELIB - SuUB Bremen
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