Novel homozygous nonsense mutation in the P5′N‐1 coding gene as an alternative cause for hereditary anemia with basophilic stippling-Reference-Cited by-同舟云学术

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

Published:2022-03 Issue:3 Volume:10 Page:
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clinical Case Reports

Author:

Kirschner Martin¹²,Heinen Inga Rebecca¹²^ORCID,Koschmieder Steffen¹²,Manco Licinio³,Bento Celeste⁴,Eggermann Thomas⁵^ORCID,Kurth Ingo⁵^ORCID,Jost Edgar¹²^ORCID,Brümmendorf Tim H.¹²,Fuchs Roland¹²

Affiliation:

1. Department of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation University Medical Center RWTH Aachen Aachen Germany

2. Center for Integrated Oncology Aachen Bonn Cologne Düsseldorf (CIO ABCD) Aachen Germany

3. Research Centre for Anthropology and Health (CIAS) Department of Life Sciences University of Coimbra Coimbra Portugal

4. Department of Clinical Hematology Centro Hospitalar e Universitário de Coimbra Coimbra Portugal

5. Institute for Human Genetics University Medical Center RWTH Aachen Aachen Germany

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.5501

Reference17 articles.

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2. Genetic basis of hemolytic anemia caused by pyrimidine 5′ nucleotidase deficiency

3. Mammalian 5′(3′)-Deoxyribonucleotidase, cDNA Cloning, and Overexpression of the Enzyme in Escherichia coli and Mammalian Cells

4. Pyrimidine nucleotidases from human erythrocyte possess phosphotransferase activities specific for pyrimidine nucleotides

5. Erythroid pyrimidine 5′-nucleotidase: cloning, developmental expression, and regulation by cAMP and in vivo hypoxia