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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...

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Detalles Bibliográficos
Autores principales: Pastor-Anglada, Marçal, Mata-Ventosa, Aida, Pérez-Torras, Sandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
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