Article
A rare mutation (p.F149del) of the NT5C3A gene is associated with pyrimidine 5'-nucleotidase deficiency.
Cellular & molecular biology letters - 24 Nov 2022
Bogusławska Dżamila M, Skulski Michał, Bartoszewski Rafał, Machnicka Beata, Heger Elżbieta, Kuliczkowski Kazimierz, Sikorski Aleksander F
Abstract excerpt
Pyrimidine 5'-nucleotidase deficiency is a rare erythrocyte enzymopathy. Here we report two cases of hemolytic anemia in brothers of Polish origin that are associated with a very rare mutation. Heterozygous deletion in the NT5C3A gene (c.444_446delGTT), inherited most likely from their asymptomatic mother, resulted in a single amino acid residue deletion (p.F149del) in cytosolic pyrimidine 5'-nucleotidase....
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