1 hasil untuk "Benjamin R. Lin"

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

Benjamin R. Lin; Derek J. Le; Yabin Chen dkk.

PLOS ONE, Vol. 11 No. 6 · 2016 · Inggris · PLOS Scopus

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…