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Recessive mutations inSLC13A5result in a loss of citrate tr..:
Hardies, Katia
;
de Kovel, Carolien G. F.
;
Weckhuysen, Sarah
...
Brain. 138 (2015) 11 - p. 3238-3250 , 2015
Link:
https://doi.org/10.1093/brain/awv263
RT Journal T1
Recessive mutations inSLC13A5result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia
UL https://suche.suub.uni-bremen.de/peid=cr-10.1093_brain_awv263&Exemplar=1&LAN=DE A1 Hardies, Katia A1 de Kovel, Carolien G. F. A1 Weckhuysen, Sarah A1 Asselbergh, Bob A1 Geuens, Thomas A1 Deconinck, Tine A1 Azmi, Abdelkrim A1 May, Patrick A1 Brilstra, Eva A1 Becker, Felicitas A1 Barisic, Nina A1 Craiu, Dana A1 Braun, Kees P.J. A1 Lal, Dennis A1 Thiele, Holger A1 Schubert, Julian A1 Weber, Yvonne A1 van 't Slot, Ruben A1 Nürnberg, Peter A1 Balling, Rudi A1 Timmerman, Vincent A1 Lerche, Holger A1 Maudsley, Stuart A1 Helbig, Ingo A1 Suls, Arvid A1 Koeleman, Bobby P.C. PB Oxford University Press (OUP) YR 2015 SN 0006-8950 SN 1460-2156 JF Brain VO 138 IS 11 SP 3238 OP 3250 LK http://dx.doi.org/https://doi.org/10.1093/brain/awv263 DO https://doi.org/10.1093/brain/awv263 SF ELIB - SuUB Bremen
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