Article
Candidate Gene Analysis Identifies Mutations in CYP1B1 and LTBP2 in Indian Families with Primary Congenital Glaucoma.
Genetic testing and molecular biomarkers - 1 Apr 2017
Yang Yeming, Zhang Lin, Li Shujin, Zhu Xianjun, Sundaresan Periasamy
Abstract excerpt
BACKGROUND: Primary congenital glaucoma (PCG) is a severe ocular disorder that presents early in life. Cytochrome P4501B1 (CYP1B1) and latent transforming growth factor-beta-binding protein 2 (LTBP2) are the most commonly mutated genes in PCG. AIM: To investigate the causative genetic mutations in eight Indian families with PCG. MATERIALS AND METHODS: Whole-exome sequencing was applied to analyze the genomic DNA...
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