Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure
| Autor: | Pérez-Torras, Sandra, Mata-Ventosa, Aida, Drögemöller, Britt, Tarailo-Graovac, Maja, Meijer, Judith, Meinsma, Rutger, van Cruchten, Arno G., Kulik, Wim, Viel-Oliva, Albert, Bidon-Chanal, Axel, Ross, Colin J., Wassermann, Wyeth W., van Karnebeek, Clara D.M., Pastor-Anglada, Marçal, van Kuilenburg, André B.P. |
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| Zdroj: | In BBA - Molecular Basis of Disease 1 June 2019 1865(6):1182-1191 |
| Databáze: | ScienceDirect |
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