Article
Identification and genotype phenotype correlation of novel mutations in SIX6 gene in primary open angle glaucoma.
Ophthalmic genetics - 1 Jun 2018
Mohanty Kuldeep, Dada Rima, Dada Tanuj
Abstract excerpt
BACKGROUND: Recently SIX1 and SIX6 genes have been associated with primary open angle glaucoma (POAG). This study was planned to do mutation screening in SIX1 and SIX6 genes in North Indian POAG patients and correlate with clinical phenotypes. MATERIALS AND METHODS: SIX1 and SIX6 genes were amplified by PCR and sequenced in 115 POAG cases and 105 controls. Four pathogenecity prediction tools (MutationTaster,...
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