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Deficiency of perforin and hCNT1, a novel inborn error of p..:
Pérez-Torras, Sandra
;
Mata-Ventosa, Aida
;
Drögemöller, Britt
...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1865 (2019) 6 - p. 1182-1191 , 2019
Link:
https://doi.org/10.1016/j.bbadis.2019.01.013
RT Journal T1 <Title>Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.bbadis.2019.01.013&Exemplar=1&LAN=DE A1 Pérez-Torras, Sandra A1 Mata-Ventosa, Aida A1 Drögemöller, Britt A1 Tarailo-Graovac, Maja A1 Meijer, Judith A1 Meinsma, Rutger A1 van Cruchten, Arno G. A1 Kulik, Wim A1 Viel-Oliva, Albert A1 Bidon-Chanal, Axel A1 Ross, Colin J. A1 Wassermann, Wyeth W. A1 van Karnebeek, Clara D.M. A1 Pastor-Anglada, Marçal A1 van Kuilenburg, André B.P. PB Elsevier BV YR 2019 SN 0925-4439 JF Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease VO 1865 IS 6 SP 1182 OP 1191 LK http://dx.doi.org/https://doi.org/10.1016/j.bbadis.2019.01.013 DO https://doi.org/10.1016/j.bbadis.2019.01.013 SF ELIB - SuUB Bremen
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