Novel causative variants of VEXAS in UBA1 detected through whole genome transcriptome sequencing in a large cohort of hematological malignancies

UBA1 is an X-linked gene and encodes an ubiquitin-activating enzyme. Three somatic mutations altering the alternative start codon (M41) in UBA1 in hematopoietic precursor cells have recently been described, resulting in a syndrome of severe inflammation, cytopenias, and the presence of intracellular...

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Detalles Bibliográficos
Autores principales: Sakuma, Maki, Blombery, Piers, Meggendorfer, Manja, Haferlach, Claudia, Lindauer, Markus, Martens, Uwe M., Kern, Wolfgang, Haferlach, Torsten, Walter, Wencke
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10169658/
https://www.ncbi.nlm.nih.gov/pubmed/36823397
http://dx.doi.org/10.1038/s41375-023-01857-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10169658/
https://www.ncbi.nlm.nih.gov/pubmed/36823397
http://dx.doi.org/10.1038/s41375-023-01857-5

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