Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract


Congenital cataract is a Mendelian disorder that frequently causes blindness in infants. To date, various cataract-associated loci have been mapped; more than 30 genes have been identified by linkage analysis. However, the pathogenic loci in some affected families are still unknown, and new research strategies are needed. In this study, we used linkage… (More)
DOI: 10.1186/1471-2350-14-107


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