全外显子组关联研究确定了极端近视中的 KDELR3 突变。
Mesh : Humans Animals Zebrafish / genetics Male Mutation Female Exome Sequencing Fibroblasts / metabolism Exome / genetics Genome-Wide Association Study Adult Myopia / genetics metabolism pathology Sclera / metabolism pathology Extracellular Matrix / metabolism genetics Genetic Predisposition to Disease Single-Cell Analysis Case-Control Studies Child Young Adult
来 源:
DOI:10.1038/s41467-024-50580-x
PDF(Pubmed)