Article
Leu432Val polymorphism in CYP1B1 as a susceptible factor towards predisposition to primary open-angle glaucoma.
Molecular vision - 8 May 2008
Bhattacharjee Ashima, Banerjee Deblina, Mookherjee Suddhasil, Acharya Moulinath, Banerjee Antara, Ray Ananya, Sen Abhijit, Ray Kunal
Abstract excerpt
PURPOSE: Defects in cytochrome P450 1B1 (CYP1B1) cause primary congenital glaucoma. However, defects in the gene have also been reported in primary open-angle glaucoma (POAG). Since POAG is primarily a complex disease, we examined the potential of coding single nucleotide polymorphisms (cSNPs) in the gene for association with the disease. METHODS: Five coding SNPs - c.514 C>G (Arg48Gly), c.727 G>T (Ala119Ser),...
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