补充因子I罕见遗传变异在芬兰与年龄相关的黄斑变性病的作用

Anneliza Andreadi1,2, Thomas M Hallam3, Vicky Brocklebank1,2

  • 1Complement Therapeutics Research Group, Translational and Clinical Research Institute, Newcastle University, Framlington Place Newcastle upon Tyne, NE2 4HH, United Kingdom.

Human molecular genetics
|November 25, 2024
PubMed
概括

补充因子I (CFI) 基因的罕见变异在芬兰人口中显著增加与年龄相关的黄斑变性 (AMD) 风险. 功能性研究揭示了这些遗传变化如何损害I因子的功能,从而导致疾病的发展.