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1 Ergebnisse
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Succinic semialdehyde dehydrogenase deficiency: The combina..:
Menduti, Giovanna
;
Biamino, Elisa
;
Vittorini, Roberta
...
Molecular Genetics and Metabolism. 124 (2018) 3 - p. 210-215 , 2018
Link:
https://doi.org/10.1016/j.ymgme.2018.05.006
RT Journal T1
Succinic semialdehyde dehydrogenase deficiency: The combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stability
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.ymgme.2018.05.006&Exemplar=1&LAN=DE A1 Menduti, Giovanna A1 Biamino, Elisa A1 Vittorini, Roberta A1 Vesco, Serena A1 Puccinelli, Maria Paola A1 Porta, Francesco A1 Capo, Concetta A1 Leo, Sara A1 Ciminelli, Bianca Maria A1 Iacovelli, Federico A1 Spada, Marco A1 Falconi, Mattia A1 Malaspina, Patrizia A1 Rossi, Luisa PB Elsevier BV YR 2018 SN 1096-7192 JF Molecular Genetics and Metabolism VO 124 IS 3 SP 210 OP 215 LK http://dx.doi.org/https://doi.org/10.1016/j.ymgme.2018.05.006 DO https://doi.org/10.1016/j.ymgme.2018.05.006 SF ELIB - SuUB Bremen
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