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- URN zum Zitieren dieses Dokuments:
- urn:nbn:de:bvb:355-epub-350594
- DOI zum Zitieren dieses Dokuments:
- 10.5283/epub.35059
Zusammenfassung
X-linked juvenile retinoschisis (XLRS) is a hereditary retinal dystrophy in young males, caused by mutations in the RS1 gene. The function of the encoded protein, termed retinoschisin, and the molecular mechanisms underlying XLRS pathogenesis are still unresolved, although a direct interaction partner of the secreted retinoschisin, the retinal Na/K-ATPase, was recently identified. Earlier gene ...
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