Properdin deficiency associated with systemic meningococcal disease due to a novel p.Cys337Arg pathogenic variant.
作者信息
González-Sánchez Laura, Agudo Ana Mei, Van Den Rym Anne, Begiristain María Isabel, Saizar Alazne, Pérez de Diego Rebeca, Nozal Pilar, López-Lera Alberto, López-Trascasa Margarita, Corvillo Fernando
机构信息
Complement Research Group, Hospital La Paz Institute for Health Research (IdiPAZ), La Paz University Hospital, Madrid 28046, Spain.
Center for Biomedical Network Research on Rare Diseases, Madrid, Spain.
出版信息
Genes Dis. 2023 Oct 4;11(6):101134. doi: 10.1016/j.gendis.2023.101134. eCollection 2024 Nov.
Abstract
摘要
Zotero 插件