Dynamic monitoring of UBA1 somatic mutations in patients with relapsing polychondritis.

Suying DuanHaiyang LuoYunchao WangDongbin JiangJiajia LiuJiaqi LiHonglin ZhengTaiqi ZhaoChenyang LiuHang ZhangChengyuan MaoLei ZhangYu-Ming Xu

Published in: Orphanet journal of rare diseases (2024)

We report UBA1 variants in patients with RP in the Chinese population for the first time. Multiple ddPCR detections from samples collected at different time points can enhance sensitivity and should be considered for patients with initial negative ddPCR results.

Keyphrases

copy number
multiple sclerosis
disease activity
genome wide