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1 Ergebnisse
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Recessive loss-of-function mutations in AP4S1 cause mild fe..:
Hardies, Katia
;
May, Patrick
;
Djémié, Tania
...
Human Molecular Genetics. 24 (2014) 8 - p. 2218-2227 , 2014
Link:
https://doi.org/10.1093/hmg/ddu740
RT Journal T1
Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly
UL https://suche.suub.uni-bremen.de/peid=cr-10.1093_hmg_ddu740&Exemplar=1&LAN=DE A1 Hardies, Katia A1 May, Patrick A1 Djémié, Tania A1 Tarta-Arsene, Oana A1 Deconinck, Tine A1 Craiu, Dana A1 Helbig, Ingo A1 Suls, Arvid A1 Balling, Rudy A1 Weckhuysen, Sarah A1 De Jonghe, Peter A1 Hirst, Jennifer A1 Afawi, Zaid A1 Barisic, Nina A1 Baulac, Stéphanie A1 Caglayan, Hande A1 Depienne, Christel A1 De Kovel, Carolien G.F. A1 Dimova, Petia A1 Guerrero-López, Rosa A1 Guerrini, Renzo A1 Hjalgrim, Helle A1 Hoffman-Zacharska, Dorota A1 Jahn, Johanna A1 Klein, Karl Martin A1 Koeleman, Bobby P.C. A1 Leguern, Eric A1 Lehesjoki, Anna-Elina A1 Lemke, Johannes A1 Lerche, Holger PB Oxford University Press (OUP) YR 2014 SN 1460-2083 SN 0964-6906 JF Human Molecular Genetics VO 24 IS 8 SP 2218 OP 2227 LK http://dx.doi.org/https://doi.org/10.1093/hmg/ddu740 DO https://doi.org/10.1093/hmg/ddu740 SF ELIB - SuUB Bremen
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