title: Prevalence of optineurin sequence variants in adult primary open angle glaucoma: implications for diagnostic testing.
authors.affiliation: Department of Molecular Genetics, Institute of Ophthalmology, University College London, UK. aung_tin@yahoo.co.uk
authors.forename: T
authors.initials: T
authors.lastname: Aung
authors.forename: N D
authors.initials: ND
authors.lastname: Ebenezer
authors.forename: G
authors.initials: G
authors.lastname: Brice
authors.forename: A H
authors.initials: AH
authors.lastname: Child
authors.forename: Q
authors.initials: Q
authors.lastname: Prescott
authors.forename: O J
authors.initials: OJ
authors.lastname: Lehmann
authors.forename: R A
authors.initials: RA
authors.lastname: Hitchings
authors.forename: S S
authors.initials: SS
authors.lastname: Bhattacharya
mesh_terms: D000328:Adult; D017668:Age of Onset; D018797:Cell Cycle Proteins; D015331:Cohort Studies; D003941:Diagnostic Techniques, Ophthalmological; D005136:Eye Proteins / Q000235:genetics*; D018740:Genetic Heterogeneity; D014644:Genetic Variation / Q000235:genetics*; D005901:Glaucoma / Q000235:genetics; D005902:Glaucoma, Open-Angle / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D007429:Intraocular Pressure / Q000235:genetics; D026901:Membrane Transport Proteins; D009154:Mutation; D020125:Mutation, Missense / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010641:Phenotype; D015995:Prevalence; D020033:Protein Isoforms / Q000235:genetics; D035582:Transcription Factor TFIIIA; D006113:United Kingdom / Q000453:epidemiology
chemical_list: D018797:Cell Cycle Proteins; D005136:Eye Proteins; D026901:Membrane Transport Proteins; D009419:Nerve Tissue Proteins; C409460:OPTN protein, human; D020033:Protein Isoforms; D035582:Transcription Factor TFIIIA