Ribosome dysfunction underlies SLFN14-related thrombocytopenia

Pathogenic missense variants in SLFN14, which encode an RNA endoribonuclease protein that regulates ribosomal RNA (rRNA) degradation, are known to cause inherited thrombocytopenia (TP) with impaired platelet aggregation and adenosine triphosphate secretion. Despite mild laboratory defects, the patie...

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Detalles Bibliográficos
Autores principales: Ver Donck, Fabienne, Ramaekers, Kato, Thys, Chantal, Van Laer, Christine, Peerlinck, Kathelijne, Van Geet, Chris, Eto, Koji, Labarque, Veerle, Freson, Kathleen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The American Society of Hematology 2023
Materias:
Platelets and Thrombopoiesis
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10646786/
https://www.ncbi.nlm.nih.gov/pubmed/36790527
http://dx.doi.org/10.1182/blood.2022017712

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10646786/
https://www.ncbi.nlm.nih.gov/pubmed/36790527
http://dx.doi.org/10.1182/blood.2022017712

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