Now showing items 1-4 of 4
Three Novel Polymorphic Microsatellite Markers for the Glaucoma Locus GLC1B by Datamining Tetranucleotide Repeats on Chromosome 2p12-q12
(Genetics and Molecular Biology, 2009)
In order to identify new markers around the glaucoma locus GLC1B as a tool to refine its critical region at 2p11.2-2q11.2, we searched the critical region sequence obtained from the UCSC database for tetranucleotide (GATA)n ...
Variation in Optineurin (OPTN) Allele Frequencies between and within Populations
(Molecular Vision, 2007-02-02)
PURPOSE: To evaluate the extent to which mutations in the optineurin (OPTN) glaucoma gene play a role in glaucoma in different populations. METHODS: Case-controlled study of OPTN sequence variants in individuals with or ...
Five Novel RPGR Mutation in brief: Mutations in Families with XLinked Retinitis Pigmentosa
(Mutation in Brief, 2000)
X-linked forms of retinitis pigmentosa (XLRP) are among the most severe because of their early onset, often leading to significant visual impairment before the fourth decade. RP3, genetically localized at Xp21.1, accounts ...
Novel and known MYOC exon 3 mutations in an admixed Peruvian primary open-angle glaucoma population
(Molecular Vision, 2012)
Purpose: The aim of this study was to characterize a representative sample of the Peruvian population suffering openangle glaucoma (OAG) with respect to the myocilin gene (MYOC) mutations, glaucoma phenotype, and ancestry ...