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Simultaneous Expression of ABCA4 and GPR143 Mutations: A Complex Phenotypic Manifestation
PURPOSE: To describe the complex, overlapping phenotype expressed in a two generation family harboring pathogenic mutations in the ABCA4 and GPR143 genes. METHODS: Clinical evaluation of a two generation family included quantitative autofluorescence imaging (qAF, 488-nm excitation) using a modified...
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| Publicado no: | Invest Ophthalmol Vis Sci |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
The Association for Research in Vision and Ophthalmology
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4961055/ https://ncbi.nlm.nih.gov/pubmed/27367509 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.16-19621 |
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