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

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

Abstract 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,...

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Bibliographic Details
Main Authors: Martin Kirschner, Inga Rebecca Heinen, Steffen Koschmieder, Licinio Manco, Celeste Bento, Thomas Eggermann, Ingo Kurth, Edgar Jost, Tim H. Brümmendorf, Roland Fuchs
Format: Article
Language:English
Published: Wiley 2022-03-01
Series:Clinical Case Reports
Subjects:
basophilic stippling
hemolysis
hereditary anemia
pyrimidine 5‐nucleotidase (P5′N‐1) deficiency
Online Access:https://doi.org/10.1002/ccr3.5501

Internet

https://doi.org/10.1002/ccr3.5501

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