| EP F-001 |
| Identification of a Novel Pathogenic Variant (c.362del) in RS1 in a Patient with X-linked Retinoschisis |
| Department of Ophthalmology, Soonchunhyang University College of Medicine |
| Eung Suk Lee, Hoon Dong Kim, Young-HoonOhn |
| 본문 : Purpose: To report a novel pathogenic variant in the RS1 gene in a Korean with X-linked retinoschisis.
Methods: Observation case report of a korean with X-linked retinoschisis underwent complete ophthalmologic examination. Genomic DNA and all exons of the –RS1 gene were amplified by polymerase chain reaction and analyzed using a direct sequencing method.
Results: A novel c.362delA mutation was identified.
Conclusions: A novel c.362delA mutation is an additional mutation which is responsible for the pathogenesis of X-linked retinoschisis. |
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