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Adult stem cell deficits drive Slc29a3 disorders in mice

3 Jul 2019

Abstract excerpt

Mutations exclusively in equilibrative nucleoside transporter 3 (ENT3), the only intracellular nucleoside transporter within the solute carrier 29 (SLC29) gene family, cause an expanding spectrum of human genetic disorders (e.g., H syndrome, PHID syndrome, and SHML/RDD syndrome). Here, we identify adult stem cell deficits that drive ENT3-related abnormalities in mice. ENT3 deficiency alters hematopoietic and...

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PMID: 31270333
DOI: 10.1038/s41467-019-10925-3

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