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Phenotype/genotype correlation in a case series of Stargardt's patients identifies novel mutations in the ABCA4 gene
PURPOSE: To investigate phenotypic variability in terms of best-corrected visual acuity (BCVA) in patients with Stargardt disease (STGD) and confirmed ABCA4 mutations. METHODS: Entire coding region analysis of the ABCA4 gene by direct sequencing of seven patients with clinical findings of STGD seen...
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| Main Authors: | , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2013
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3831132/ https://ncbi.nlm.nih.gov/pubmed/23949494 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/eye.2013.176 |
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