Article
Angiopoietin receptor TEK interacts with CYP1B1 in primary congenital glaucoma.
Human genetics - 1 Aug 2017
Kabra Meha, Zhang Wei, Rathi Sonika, Mandal Anil K, Senthil Sirisha, Pyatla Goutham, Ramappa Muralidhar, Banerjee Seema, Shekhar Konegari, Marmamula Srinivas, Mettla Asha L, Kaur Inderjeet, Khanna Rohit C, Khanna Hemant, Chakrabarti Subhabrata
Abstract excerpt
Primary congenital glaucoma (PCG) is a severe autosomal recessive ocular disorder associated with considerable clinical and genetic heterogeneity. Recently, rare heterozygous alleles in the angiopoietin receptor-encoding gene TEK were implicated in PCG. We undertook this study to ascertain the second mutant allele in a large cohort (n = 337) of autosomal recessive PCG cases that carried heterozygous TEK...
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