Compound Heterozygous p.(R124C) (Classic Lattice Corneal Dystrophy) and p.(R124H) (Granular Corneal Dystrophy Type 2) in TGFBI: Phenotype, Genotype, and Treatment
TGFBI基因复合杂合子p.(R124C)(经典型格子状角膜营养不良)和p.(R124H)(2型颗粒状角膜营养不良):表型、基因型和治疗
期刊:Genes
影响因子:2.8
doi:10.3390/genes16010076
Min, Ji Sang; Kim, Tae-Im; Jun, Ikhyun; Stulting, R Doyle; Rho, Changrae; Han, Sang Beom; Kim, Heeyoung; Choi, Jinseok; Han, Jinu; Kim, Eung Kweon