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1 Ergebnisse
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PIGV P.L472p mutation identified by exome sequencing in a n..:
Sundercombe, Samantha
;
Walsh, Rebecca
;
Hanna, Bernadette
...
Pathology. 54 (2022) - p. S72-S73 , 2022
Link:
https://doi.org/10.1016/j.pathol.2021.12.239
RT Journal T1
PIGV P.L472p mutation identified by exome sequencing in a neonate with a glycosylation disorder confirmed by flow cytometry
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.pathol.2021.12.239&Exemplar=1&LAN=DE A1 Sundercombe, Samantha A1 Walsh, Rebecca A1 Hanna, Bernadette A1 Elserafy, Noha A1 Kirk, Edwin A1 Zhang, Futao A1 Zhu, Ying A1 Buckley, Michael A1 Aklilu, Esther A1 Roscioli, Tony PB Elsevier BV YR 2022 SN 0031-3025 JF Pathology VO 54 SP S72 OP S73 LK http://dx.doi.org/https://doi.org/10.1016/j.pathol.2021.12.239 DO https://doi.org/10.1016/j.pathol.2021.12.239 SF ELIB - SuUB Bremen
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