A novel stop codon mutation of TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy

CONCLUSIONS: We found the novel stop codon mutation p.Tyr211Ter in the TSPAN12, which creates a milder phenotype. Discovery of this novel mutation expands the mutation spectrum of TSPAN12, and would be valuable for future genetic disease diagnosis.PMID:34738848 | DOI:10.1080/13816810.2021.1998555

Source: Ophthalmic Genetics - November 5, 2021 Category: Opthalmology Authors: Gang Zou Rui Qi Meijiao Ma Shangyi Fu Qingnan Liang Xiaojun Bi Chanjuan Wang Xuejun Hu Yujuan Cai Xunlun Sheng Source Type: research