Article
Whole Exome Sequencing and Segregation Analysis Confirms That a Mutation in COL17A1 Is the Cause of Epithelial Recurrent Erosion Dystrophy in a Large Dominant Pedigree Previously Mapped to Chromosome 10q23-q24.
PloS one - 1 Jan 2016
Lin Benjamin R, Le Derek J, Chen Yabin, Wang Qiwei, Chung D Doug, Frausto Ricardo F, Croasdale Christopher, Yee Richard W, Hejtmancik Fielding J, Aldave Anthony J
Abstract excerpt
PURPOSE: To report identification of a COL17A1 mutation in a family with a corneal dystrophy previously mapped to chromosome 10q23-q24. METHODS: Whole-exome sequencing was performed on DNA samples from five affected family members and two unrelated, unaffected individuals. Identified variants were filtered for those that were: located in the linked interval on chromosome 10q23-q24; novel or rare (minor allele...
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