关键词: Bietti crystalline corneoretinal dystrophy CYP4V2 Compound heterozygous mutations Targeted next generation sequencing
Mesh : Adult Corneal Dystrophies, Hereditary / genetics pathology Cytochrome P450 Family 4 / genetics DNA Mutational Analysis Female Frameshift Mutation Humans Male Mutation, Missense Pedigree Retinal Diseases / genetics pathology
来 源:
DOI:10.1016/j.gene.2021.145698
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