A rare mutation (p.F149del) of the NT5C3A gene is associated with pyrimidine 5′-nucleotidase deficiency

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...

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Detalles Bibliográficos
Autores principales: Bogusławska, Dżamila M., Skulski, Michał, Bartoszewski, Rafał, Machnicka, Beata, Heger, Elżbieta, Kuliczkowski, Kazimierz, Sikorski, Aleksander F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9700897/
https://www.ncbi.nlm.nih.gov/pubmed/36434495
http://dx.doi.org/10.1186/s11658-022-00405-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9700897/
https://www.ncbi.nlm.nih.gov/pubmed/36434495
http://dx.doi.org/10.1186/s11658-022-00405-w

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