Dynamic monitoring of UBA1 somatic mutations in patients with relapsing polychondritis

Dynamic monitoring of UBA1 somatic mutations in patients with relapsing polychondritis

Abstract Background Commonly clinically diagnosed with relapsing polychondritis (RP), vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (VEXAS) is a recently identified autoinflammatory disease caused by UBA1 somatic mutations. The low frequency and dynamic changes challenge the accu...

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Bibliographic Details
Main Authors: Suying Duan, Haiyang Luo, Yunchao Wang, Dongbin Jiang, Jiajia Liu, Jiaqi Li, Honglin Zheng, Taiqi Zhao, Chenyang Liu, Hang Zhang, Chengyuan Mao, Lei Zhang, Yuming Xu
Format: Article
Language:English
Published: BMC 2024-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Droplet digital PCR
UBA1
Somatic mutations
Relapsing polychondritis
Dynamic monitoring
VEXAS
Online Access:https://doi.org/10.1186/s13023-023-03003-x

Internet

https://doi.org/10.1186/s13023-023-03003-x

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