Title: A rare mutation (p.F149del) of the NT5C3A gene is associated with pyrimidine 5'- nucleotidase deficiency
Authors: Dżamila M. Bogusławska1*, Michał Skulski2, Rafał Bartoszewski3, Beata Machnicka1, Elżbieta Heger1, Kazimierz Kuliczkowski4, Aleksander F. Sikorski5
Journal: Cellular and Molecular Biology Letters
Publication type: article
DOI: 10.1186/s11658-022-00405-w