Disease-Causing TIMP3 Variants and Deep Phenotyping of Two Czech Families with Sorsby Fundus Dystrophy Associated with Novel p.(Tyr152Cys) Mutation
致病性TIMP3变异体及与新型p.(Tyr152Cys)突变相关的两个捷克索尔斯比眼底营养不良家族的深度表型分析
期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms25073744
Vergaro, Andrea; Pankievic, Monika; Jedlickova, Jana; Dudakova, Lubica; Vajter, Marie; Michaelides, Michel; Meliska, Martin; Nemec, Pavel; Babincova, Daniela; Kousal, Bohdan; Liskova, Petra