Abstract
PURPOSE: To report a novel missense mutation in the XLRS1 gene in a Korean family with X-linked retinoschisis. METHODS: Observation case report of a family with a proband with X-linked retinoschisis underwent complete ophthalmologic examination. Genomic DNA was excluded from the family's blood and all exons of the XLRS1 gene were amplified by polymerase chain reaction and analyzed using a direct sequencing method. RESULTS: A novel Leu103Phe missense mutation was identified. CONCLUSIONS: A novel Leu103Phe mutation is an additional missense mutation which is responsible for the pathogenesis of X-linked retinoschisis.
| Original language | English |
|---|---|
| Pages (from-to) | 62-64 |
| Number of pages | 3 |
| Journal | Korean journal of ophthalmology : KJO |
| Volume | 20 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - 2006 Mar |
All Science Journal Classification (ASJC) codes
- Medicine(all)
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Koh, H. J., Jwa, N. S., Kim, S. S., Lee, S. C., & Kwon, O. W. (2006). A novel mutation in the XLRS1 gene in a Korean family with X-linked retinoschisis. Korean journal of ophthalmology : KJO, 20(1), 62-64. https://doi.org/10.3341/kjo.2006.20.1.62