Article
The utility of next-generation sequencing in the evaluation of the posterior polymorphous corneal dystrophy 1 locus.
Molecular vision - 18 Dec 2010
Lai Isabella N, Yellore Vivek S, Rayner Sylvia A, D'Silva Nerissa C, Nguyen Catherine K, Aldave Anthony J
Abstract excerpt
PURPOSE: To identify the genetic basis of posterior polymorphous corneal dystrophy 1 (PPCD1) using next-generation sequencing (NGS) of the common PPCD1 support interval, in which Sanger sequencing failed to identify a pathogenic mutation. METHODS: Enrichment of the portion of chromosome 20 containing the common PPCD1 interval was performed on DNA extracted from an affected and an unaffected member of a family...
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