OPTINEURIN SEQUENCE VARIANTS IN BRITISH GLAUCOMA SUBJECTS

• 作 者: T.Aung N.Ebenezer G.Brice A.Child R.Hitchings O.Lehmann S.Bhattacharya
• 机 构: Institute of Ophthalmology University Col-lege, Singapore National Eye Centre,Institute of Ophthalmo
• 出 处: 国际眼科杂志
• 发表日期: 2003年01期
• 关键词: glaucoma mutation mutated morethan underlying

Aim: A recent study found that the Optineurin (OPTN) gene was mutated in families with primary open angle glaucoma (POAG), A misense mutation E50K was present in 13.5% of families studied, and the M98K risk-associated change was identified in 13.6% of POAG subjects. The aim of this study was to investi-

Aim: A recent study found that the Optineurin (OPTN) gene was mutated in families with primary open angle glaucoma (POAG), A misense mutation E50K was present in 13.5% of families studied, and the M98K risk-associated change was identified in 13.6 % of POAG subjects. The aim of this study was to investi-