Identification and functional characterisation of a novel DNASE1L3 variant (c.572A>G, p.Asn191Ser) in three Emirati families with systemic lupus erythematosus and hypocomplementaemic urticarial vasculitis
在三个患有系统性红斑狼疮和低补体血症性荨麻疹性血管炎的阿联酋家族中,对新型 DNASE1L3 变体 (c.572A>G、p.Asn191Ser) 进行鉴定和功能表征
期刊:Lupus Science & Medicine
影响因子:3.7
doi:10.1136/lupus-2024-001477
Najla Aljaberi, Anjali Bharathan, Remya Prajesh Gopal, Ekhlass Mohammed, Fatema Al Shibli, Mohammed Tabouni, Sara Alhmoudi, Praseetha Kizhakkedath, Ibrahim Baydoun, Mushal Allam, Noor Mustafa, Fatma Aljasmi, Afra Al Dhaheri, Hiba Alblooshi