Prevalence of optineurin sequence variants in adult primary open angle glaucoma: implications for diagnostic testing

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Bibliographische Detailangaben
Veröffentlicht in:	Journal of medical genetics 2003-08, Vol.40 (8), p.e101-101
Hauptverfasser:	Aung, T, Ebenezer, N D, Brice, G, Child, A H, Prescott, Q, Lehmann, O J, Hitchings, R A, Bhattacharya, S S
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Age of Onset Cohort Studies Diagnostic Techniques, Ophthalmological Diagnostic tests Enzymes Eye Proteins - genetics Family medical history Genetic Heterogeneity Genetic testing Genetic Variation - genetics Glaucoma Glaucoma - genetics Glaucoma, Open-Angle - diagnosis Glaucoma, Open-Angle - epidemiology Glaucoma, Open-Angle - genetics Haplotypes high tension glaucoma HTG Humans intraocular pressure Intraocular Pressure - genetics IOP Mutation Mutation, Missense - genetics MYOC myocilin Nerve Tissue Proteins - genetics normal tension glaucoma NTG Online Mutation Report optineurin optineurin mutations OPTN PCR Phenotype POAG polymerase chain reaction Prevalence primary open angle glaucoma Protein Isoforms - genetics single nucleotide polymorphism SNP Transcription Factor TFIIIA United Kingdom - epidemiology
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