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Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure.
Biochim Biophys Acta Mol Basis Dis. 2019 Jun 1;1865(6):1182-1191. doi: 10.1016/j.bbadis.2019.01.013. Epub 2019 Jan 15.
Biochim Biophys Acta Mol Basis Dis. 2019.
PMID: 30658162
Free article.
Identification and Characterization of a Secondary Sodium-Binding Site and the Main Selectivity Determinants in the Human Concentrative Nucleoside Transporter 3.
Arimany-Nardi C, Claudio-Montero A, Viel-Oliva A, Schmidtke P, Estarellas C, Barril X, Bidon-Chanal A, Pastor-Anglada M.
Arimany-Nardi C, et al. Among authors: viel oliva a.
Mol Pharm. 2017 Jun 5;14(6):1980-1987. doi: 10.1021/acs.molpharmaceut.7b00085. Epub 2017 May 9.
Mol Pharm. 2017.
PMID: 28441873
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