A COL17A1 Splice-Altering Mutation Is Prevalent in Inherited Recurrent Corneal Erosions

Corneal dystrophies are a genetically heterogeneous group of disorders. We previously described a family with an autosomal dominant epithelial recurrent erosion dystrophy (ERED). We aimed to identify the underlying genetic cause of ERED in this family and 3 additional ERED families. We sought to cha...

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Bibliographic Details
Published in:	Ophthalmology (Rochester, Minn.) Vol. 123; no. 4; p. 709
Main Authors:	Oliver, Verity F, van Bysterveldt, Katherine A, Cadzow, Murray, Steger, Bernhard, Romano, Vito, Markie, David, Hewitt, Alex W, Mackey, David A, Willoughby, Colin E, Sherwin, Trevor, Crosier, Philip S, McGhee, Charles N, Vincent, Andrea L
Format:	Journal Article
Language:	English
Published:	United States 01.04.2016
Subjects:	Adolescent Adult Aged Alternative Splicing - genetics Animals Autoantigens - genetics Child Collagen Type XVII Corneal Dystrophies, Hereditary - diagnosis Corneal Dystrophies, Hereditary - genetics Disease Models, Animal Epithelium, Corneal - pathology Female Gene Expression Regulation - physiology Gene Silencing Genetic Linkage High-Throughput Nucleotide Sequencing HSP40 Heat-Shock Proteins - genetics 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
ISSN:	1549-4713, 1549-4713
Online Access:	Get more information
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