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Retinal dystrophies caused by mutations in RPE65: assessment of visual functions
AIMS—To characterise the disease in patients with mutations in RPE65. METHODS—Individuals from two families were studied clinically. RESULTS—13 and 20 year old compound heterozygote individuals from one family with R234X and 1121delA mutations showed nystagmus, macular dystrophy and low contrasted s...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2001
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1723940/ https://ncbi.nlm.nih.gov/pubmed/11264131 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bjo.85.4.424 |
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