Oliver, Verity F

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