Article
Mutation analysis of two families with inherited congenital cataracts.
Molecular medicine reports - 1 Sept 2015
Liang Chang, Liang Han, Yang Yu, Ping Liu, Jie Qiao
Abstract excerpt
The present study aimed to identify the genetic mutations in two families affected with congenital cataracts. Detailed family histories and clinical data of the family members were recorded. The family members with affected phenotypes were recruited, and candidate gene sequencing was performed to determine the disease‑causing mutation. Bioinformatics analysis was performed to predict the function of the mutant...
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