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Article

Copy number variations on chromosome 12q14 in patients with normal tension glaucoma

29 Mar 2011

Abstract excerpt

We report identification of a novel genetic locus (GLC1P) for normal tension glaucoma (NTG) on chromosome 12q14 using linkage studies of an African-American pedigree (maximum non-parametric linkage score = 19.7, max LOD score = 2.7). Subsequent comparative genomic hybridization and quantitative polymerase chain reaction (PCR) experiments identified a 780 kbp duplication within the GLC1P locus that is co-inherited...

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PMID: 21447600
DOI: 10.1093/hmg/ddr123

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