Novel homozygous nonsense mutation in the P5′N‐1 coding gene as an alternative cause for hereditary anemia with basophilic stippling

Hereditary pyrimidine 5‐nucleotidase (P5′N‐1) deficiency is a very rare disorder. Here, we describe a new mutation in a Turkish family. Although functional tests have not been performed, our findings confirm that the homozygous mutational state leads to clinical manifest P5′N‐1 deficiency, while het...

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Detalles Bibliográficos
Autores principales: Kirschner, Martin, Heinen, Inga Rebecca, Koschmieder, Steffen, Manco, Licinio, Bento, Celeste, Eggermann, Thomas, Kurth, Ingo, Jost, Edgar, Brümmendorf, Tim H., Fuchs, Roland
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8895901/
https://www.ncbi.nlm.nih.gov/pubmed/35280089
http://dx.doi.org/10.1002/ccr3.5501

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8895901/
https://www.ncbi.nlm.nih.gov/pubmed/35280089
http://dx.doi.org/10.1002/ccr3.5501

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