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Inborn Errors of Nucleoside Transporter (NT)-Encoding Genes (SLC28 and SLC29)
The proper regulation of nucleotide pools is essential for all types of cellular functions and depends on de novo nucleotide biosynthesis, salvage, and degradation pathways. Despite the apparent essentiality of these processes, a significant number of rare diseases associated with mutations in genes...
Autores principales: | Pastor-Anglada, Marçal, Mata-Ventosa, Aida, Pérez-Torras, Sandra |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9369021/ https://www.ncbi.nlm.nih.gov/pubmed/35955904 http://dx.doi.org/10.3390/ijms23158770 |
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