Gehrig, Andrea and White, Karen and Lorenz, Birgit and Andrassi, Monika and Clemens, Stefan and Weber, Bernhard H. F. (1999) Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis. CLINICAL GENETICS, 55 (6). pp. 461-465. ISSN 0009-9163,
Full text not available from this repository. (Request a copy)Abstract
The RSI gene is the causative gene in X-linked juvenile retinoschisis (RS). We have screened this gene for mutations in 13 patients with RS and in 7 probands with senile retinoschisis, a sporadic, later-onset form of retinoschisis. Mutations were detected in all IRS patients. Of the 11 different mutations identified, six have been reported previously and five are novel. We did not find mutations in any of the senile retinoschisis patients and conclude that senile retinoschisis is not the result of germline mutations in the RS1 gene.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | DISEASE GENE ABCR; RETINITIS-PIGMENTOSA; MACULAR DYSTROPHY; NATURAL-HISTORY; XLRS1 GENE; RDS GENE; MUTATIONS; DEGENERATION; mutation analysis; RS1; senile retinoschisis; X-linked juvenile retinoschisis |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Abteilung für Pädiatrische Ophthalmologie, Strabismologie und Ophthalmogenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 07 Feb 2023 15:01 |
| Last Modified: | 07 Feb 2023 15:01 |
| URI: | https://pred.uni-regensburg.de/id/eprint/49187 |
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