PREDICTED PROTEIN STRUCTURE VARIATIONS INDICATE THE CLINICAL PRESENTATION OF CYP4V2-RELATED BIETTI CRYSTALLINE DYSTROPHY - Chan, Li-Wei; Sung, Yu-Chi; Wu, Dung-Chi; Chen, Chien-Yu; Yang, Chang-Hao; Yang, Chung-May; Chen, Pei-Lung; Chen, Ta-Ching (Retina (Philadelphia, Pa.), 2022)
Keywords: Cohort Studies; Corneal Dystrophies, Hereditary - diagnosis; Corneal Dystrophies, Hereditary - genetics; Cytochrome P450 Family 4 - genetics; Cytochrome P450 Family 4 - metabolism; DNA Mutational Analysis; Humans; Mutation; Pedigree; Retinal Diseases - diagnosis; Retinal Diseases - genetics