Genetic basis of relapsing polychondritis revealed by family-based whole-exome sequencing.

Zhiming LinXiaoyu ZuoLian GuiJun QiXinghua GuoQing LvYanli ZhangLinkai FangXi ZhangJieruo GuZhiming Lin

Published in: International journal of rheumatic diseases (2020)

This study suggests that coinheritance of multigene mutation may contribute to RP predisposition. The candidate genes mutated which we discovered are potential targets for in-depth functional studies.

Keyphrases

multiple sclerosis
optical coherence tomography
disease activity
gene expression
copy number
dna methylation
human health
systemic lupus erythematosus
climate change
risk assessment
wild type