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X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients
Background: Inactivating mutations of the gene RS1 lead to X-linked retinoschisis, a progressive retinal dystrophy characterised by schisis within the inner layers of the neuroretina. The mutation spectrum is large and the phenotype variable. Aim: To determine whether there is a correlation between...
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| Autori principali: | , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BMJ Group
2005
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1736077/ https://ncbi.nlm.nih.gov/pubmed/15937075 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2004.029769 |
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