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Mutation Spectrum of EYS in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa
Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal dystrophies characterised ultimately by the loss of photoreceptor cells. We have recently identified a new gene (EYS) encoding an ortholog of Drosophila spacemaker (spam) as a commonly mutated gene in autosomal recessive RP. In...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , , , , , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Wiley Subscription Services, Inc., A Wiley Company
2010
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3045506/ https://ncbi.nlm.nih.gov/pubmed/21069908 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21334 |
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