Novel somatic mutations in UBA1 as a cause of VEXAS syndrome

被引：141
|
作者：
Poulter, James A. [1 ,2 ]
Collins, Jason C. [3 ]
Cargo, Catherine [4 ]
De Tute, Ruth M. [4 ]
Evans, Paul [4 ]
Cardona, Daniela Ospina [5 ]
Bowen, David T. [6 ]
Cunnington, Joanna R. [7 ]
Baguley, Elaine [7 ]
Quinn, Mark [8 ]
Green, Michael [8 ]
McGonagle, Dennis [1 ,9 ]
Beck, David B. [5 ]
Werner, Achim [3 ]
Savic, Sinisa [1 ,9 ]
机构：
[1] Univ Leeds, Leeds Inst Rheumat & Musculoskeletal Med, Leeds, W Yorkshire, England
[2] Univ Leeds, Leeds Inst Med Res, Leeds, W Yorkshire, England
[3] Natl Inst Dent & Craniofacial Res, NIH, Bethesda, MD USA
[4] St James Univ Hosp, Haematol Malignancy Diagnost Serv, Leeds, W Yorkshire, England
[5] NHGRI, NIH, Bethesda, MD 20892 USA
[6] Leeds Teaching Hosp, Dept Haematol, Leeds, W Yorkshire, England
[7] Hull Univ Teaching Hosp, Dept Rheumatol, Kingston Upon Hull, N Humberside, England
[8] York Teaching Hosp NHS Fdn Trust, Dept Rheumatol, York, N Yorkshire, England
[9] Univ Leeds, Leeds Biomed Res Ctr, Natl Inst Hlth Res, Leeds, W Yorkshire, England
来源：
BLOOD | 2021年 / 137卷 / 26期
基金：
欧盟地平线“2020”; 美国国家卫生研究院;
关键词：
D O I：
10.1182/blood.2020010286
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：3676 / 3681
页数：7
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