A copy of this work was available on the public web and has been preserved in the Wayback Machine. The capture dates from 2019; you can also visit the original URL.
The file type is
Intoduction: Inherited cataract, opacification of the lens, is the most common worldwide cause of blindness in children. We aimed to identify the genetic cause of autosomal dominant posterior nuclear cataract in a four generation British family. Methods: Whole genome sequence (WGS) was performed on two affected and one unaffected individual of the family and further validated by direct sequencing. Haplotype analysis was performed via genotying. Results: A splice-site mutation c.2826-9G>A in thedoi:10.1080/13816810.2017.1381977 pmid:29039721 fatcat:dsd3c7hrqnaejbe6rk4gbl67rq