Novel somatic mutations in UBA1 as a cause of VEXAS syndrome

Poulter and colleagues describe a series from the United Kingdom of 10 male patients with VEXAS syndrome, including 2 with novel genetic changes affecting methionine 41 of E1.

Detalles Bibliográficos
Autores principales: Poulter, James A., Collins, Jason C., Cargo, Catherine, De Tute, Ruth M., Evans, Paul, Ospina Cardona, Daniela, Bowen, David T., Cunnington, Joanna R., Baguley, Elaine, Quinn, Mark, Green, Michael, McGonagle, Dennis, Beck, David B., Werner, Achim, Savic, Sinisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society of Hematology 2021
Materias:
Letter to Blood
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8462400/
https://www.ncbi.nlm.nih.gov/pubmed/33690815
http://dx.doi.org/10.1182/blood.2020010286
Descripción
Sumario:Poulter and colleagues describe a series from the United Kingdom of 10 male patients with VEXAS syndrome, including 2 with novel genetic changes affecting methionine 41 of E1.

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