| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 5905474 | Gene | 2015 | 4 Pages |
Abstract
As a result, WES revealed two novel compound heterozygous mutations in a Turkish USH2A patient. This approach gave us an opportunity to have an appropriate diagnosis and provide genetic counseling to the family within a reasonable time.
Keywords
WESSNSsGATKarRPUSH2ASNVRetinitis pigmentosaVEPIGVERGSIFTDNAGenome Analysis Toolkitdeoxyribonucleic acidelectroretinogramsingle nucleotide variationWhole exome sequencingWhole-exome sequencingautosomal recessive retinitis pigmentosaUsher syndromeIntegrative Genomics ViewerSorting Intolerant From TolerantVisual evoked potential
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Authors
Asuman Koparir, Omer Faruk Karatas, Ali Timucin Atayoglu, Bayram Yuksel, Mahmut Samil Sagiroglu, Mehmet Seven, Hakan Ulucan, Adnan Yuksel, Mustafa Ozen,