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A novel mutation inSPARTgene causes a severe neurodevelopme..:
Diquigiovanni, Chiara
;
Bergamini, Christian
;
Diaz, Rebeca
...
The FASEB Journal. 33 (2019) 10 - p. 11284-11302 , 2019
Link:
https://doi.org/10.1096/fj.201802722r
RT Journal T1
A novel mutation inSPARTgene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism
UL https://suche.suub.uni-bremen.de/peid=cr-10.1096_fj.201802722r&Exemplar=1&LAN=DE A1 Diquigiovanni, Chiara A1 Bergamini, Christian A1 Diaz, Rebeca A1 Liparulo, Irene A1 Bianco, Francesca A1 Masin, Luca A1 Baldassarro, Vito Antonio A1 Rizzardi, Nicola A1 Tranchina, Antonia A1 Buscherini, Francesco A1 Wischmeijer, Anita A1 Pippucci, Tommaso A1 Scarano, Emanuela A1 Cordelli, Duccio Maria A1 Fato, Romana A1 Seri, Marco A1 Paracchini, Silvia A1 Bonora, Elena PB Wiley YR 2019 SN 0892-6638 SN 1530-6860 JF The FASEB Journal VO 33 IS 10 SP 11284 OP 11302 LK http://dx.doi.org/https://doi.org/10.1096/fj.201802722r DO https://doi.org/10.1096/fj.201802722r SF ELIB - SuUB Bremen
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