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Article

Screening glaucoma genes in adult glaucoma suggests a multiallelic contribution of CYP1B1 to open-angle glaucoma phenotypes.

Clinical & experimental ophthalmology - 1 Jan 2000

Patel Hussain Y, Richards Amanda J, De Karolyi Betina, Best Stephen J, Danesh-Meyer Helen V, Vincent Andrea L

Abstract excerpt

BACKGROUND: Despite increasing knowledge of the genetic pathophysiology of glaucoma, mutations in known genes account for less than 15% of disease. Gene screening predominantly remains a research tool rather than an essential part of the clinical work-up. We aimed to determine the mutational spectrum and frequency in the genes implicated in glaucoma, in a range of glaucoma and 'glaucoma suspect' (GS)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22004014
DOI: 10.1111/j.1442-9071.2011.02714.x

Genes

MYOC
OPTN
LOXL1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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