A COL17A1 Splice-Altering Mutation Is Prevalent in Inherited Recurrent Corneal Erosions. [electronic resource]
- Ophthalmology Apr 2016
- 709-22 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1549-4713
10.1016/j.ophtha.2015.12.008 doi
Adolescent Adult Aged Alternative Splicing--genetics Animals Autoantigens--genetics Child Corneal Dystrophies, Hereditary--diagnosis Disease Models, Animal Epithelium, Corneal--pathology Female Gene Expression Regulation--physiology Gene Silencing Genetic Linkage HSP40 Heat-Shock Proteins--genetics High-Throughput Nucleotide Sequencing Humans Immunohistochemistry In Situ Hybridization Male Microsatellite Repeats Microscopy, Confocal Middle Aged Mutation Non-Fibrillar Collagens--genetics Pedigree Polymorphism, Single Nucleotide Reverse Transcriptase Polymerase Chain Reaction Zebrafish Collagen Type XVII