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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.

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Academic year: 2017

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Table 1. Filtered coding region variants in positional candidate genes for the corneal dystrophy linked to chromosome 10q23-q24.
Fig 2. Clinical features of chromosome 10q23-q24 linked dystrophy. A. Affected individual V-2 (28 years old) demonstrates a clear cornea in the right eye
Table 2. Sanger sequencing results of filtered candidate variants for the corneal dystrophy linked to chromosome 10q23-q24.

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