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Fig. 3 | BMC Medical Genetics

Fig. 3

From: Progressive optic nerve changes in cavitary optic disc anomaly: integration of copy number alteration and cis-expression quantitative trait loci to assess disease etiology

Fig. 3

Genetic testing results. Top, 1% agarose gel with breakpoint polymerase chain reaction testing of cavitary optic disc anomaly pedigree and unrelated individuals. Middle, Results of pre-designed quantitative polymerase chain reaction copy number assay. Error bars represent minimum and maximum copy number as reported by CopyCaller software. Bottom left, 0.7% agarose gel electrophoresis of products of long range PCR. Bottom right, breakpoint primer design showing lack of product in wild type haplotype, ~ 500 bp product in tandem duplication, and ~ 500 bp product plus 8 kb product in tandem triplication

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BMC Medical Genetics

ISSN: 1471-2350

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