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A founder mutation in the PLPBP gene in families from Sague..:
Pal, Maitou
;
Lace, Baiba
;
Labrie, Yvan
...
JIMD Reports. 59 (2021) 1 - p. 32-41 , 2021
Link:
https://doi.org/10.1002/jmd2.12196
RT Journal T1
A founder mutation in the PLPBP gene in families from Saguenay‐Lac‐St‐Jean region affected by a pyridoxine‐dependent epilepsy
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_jmd2.12196&Exemplar=1&LAN=DE A1 Pal, Maitou A1 Lace, Baiba A1 Labrie, Yvan A1 Laflamme, Nathalie A1 Rioux, Nadie A1 Setty, Samarth Thonta A1 Dugas, Marc‐Andre A1 Gosselin, Louise A1 Droit, Arnaud A1 Chrestian, Nicolas A1 Rivest, Serge PB Wiley YR 2021 SN 2192-8312 SN 2192-8312 JF JIMD Reports VO 59 IS 1 SP 32 OP 41 LK http://dx.doi.org/https://doi.org/10.1002/jmd2.12196 DO https://doi.org/10.1002/jmd2.12196 SF ELIB - SuUB Bremen
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