First patient affected by a mutation in the nucleoside transporter SLC28 gene family
Wednesday, February 6, 2019 - 08:50
in Biology & Nature
A research team has described the first case of a patient affected by dysfunctions in a nucleoside transporter of the SLC28 gene family, which brings into focus a set of genes which were not related to human pathologies in the scientific bibliography so far. In particular, the new study has identified mutations in the SLC28A1 gene, which could affect the synthesis of the hCNT1 protein and therefore, alter the pyrimidine metabolism (organic compounds with a key role in cell physiology).