Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure
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| Description | scientific article published on 15 January 2019 |
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author: Colin J. Ross Rutger J Meinsma Clara van Karnebeek André B P van Kuilenburg Britt Drogemoller Maja Tarailo-Graovac |
| Publication date | January 15, 2019 |
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