Genomic screening of ABCA4 and array CGH analysis underline the genetic variability of Greek patients with inherited retinal diseases
•Sixteen known pathological genetic variants were identified in ABCA4 gene in Greek patients with retinal dystrophies.•Two novel variants were found in patients with Stargardt’s disease and cone-rod dystrophy respectively.•Two reported mutations in Stargardt's patients were identified in retini...
| Main Authors: | , , , , , , , |
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| Format: | Online |
| Language: | English |
| Published: |
Elsevier
2016
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4792891/ |