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Phenotypic Variability Due to a Novel Glu292Lys Variation in Exon 8 of the BEST1 Gene Causing Best Macular Dystrophy
OBJECTIVE: To study the phenotypic characteristics of patients with a novel p.E292K mutation in BEST1. METHODS: Affected individuals underwent ophthalmic examination and testing that included photography, autofluorescence, OCT, and electrophysiological testing. DNA was analyzed for BEST1 mutations....
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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2009
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2711525/ https://ncbi.nlm.nih.gov/pubmed/19597114 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/archophthalmol.2009.148 |
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