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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.
| Autores principales: | , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
American Society of Hematology
2021
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| Materias: | |
| 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 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Poulter, James A. |
| collection | PubMed |
| description | 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. |
| format | Online Article Text |
| id | pubmed-8462400 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2021 |
| publisher | American Society of Hematology |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-84624002022-07-01 Novel somatic mutations in UBA1 as a cause of VEXAS syndrome 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 Blood Letter to Blood 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. American Society of Hematology 2021-07-01 /pmc/articles/PMC8462400/ /pubmed/33690815 http://dx.doi.org/10.1182/blood.2020010286 Text en This article is made available via the PMC Open Access Subset for unrestricted reuse and analyses in any form or by any means with acknowledgment of the original source. These permissions are granted for the duration of the World Health Organization (WHO) declaration of COVID-19 as a global pandemic or until permissions are revoked in writing. Upon expiration of these permissions, PMC is granted a perpetual license to make this article available via PMC and Europe PMC, consistent with existing copyright protections. |
| spellingShingle | Letter to Blood 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 Novel somatic mutations in UBA1 as a cause of VEXAS syndrome |
| title | Novel somatic mutations in UBA1 as a cause of VEXAS syndrome |
| title_full | Novel somatic mutations in UBA1 as a cause of VEXAS syndrome |
| title_fullStr | Novel somatic mutations in UBA1 as a cause of VEXAS syndrome |
| title_full_unstemmed | Novel somatic mutations in UBA1 as a cause of VEXAS syndrome |
| title_short | Novel somatic mutations in UBA1 as a cause of VEXAS syndrome |
| title_sort | novel somatic mutations in uba1 as a cause of vexas syndrome |
| topic | Letter to Blood |
| url | 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 |
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