Pathogenic mechanism of congenital cataract caused by the CRYBA1/A3-G91del variant and related intervention strategies
Jingjie Xu, Huaxia Wang, Chengpeng Wu, Ailing Wang, Wei Wu, Jia Xu, Chenqi Luo, Shuang Ni, Ke Yao, Xiangjun Chen
Topics & Concepts
MutantMutationProteolysisCrystallinCataractsExonPhenotypeGeneMechanism (biology)GeneticsBiologyChemistryCell biologyBiochemistryPhilosophyEpistemologyEnzymeConnexins and lens biologyHeat shock proteins researchS100 Proteins and Annexins