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Three Novel Polymorphic Microsatellite Markers for the Glaucoma Locus GLC1B by Datamining Tetranucleotide Repeats on Chromosome 2p12-q12
(Genetics and Molecular Biology, 2009)
Acceso abierto
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)
Acceso abierto
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)
Acceso abierto
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)
Acceso abierto
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 ...
