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Autofluorescence Imaging and Phenotypic variance in a Sibling pair with Early Onset Retinal Dystrophy due to defective CRB1 function
PURPOSE: To phenotype two siblings with autosomal recessive early onset retinal dystrophy due to CRB1 mutations. METHODS: Autofluorescence (AF) imaging, high resolution optical coherence tomography (OCT), and full-field electroretinography (ERG) were performed. The results of DNA sequencing from pol...
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| 主要な著者: | , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2009
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2717950/ https://ncbi.nlm.nih.gov/pubmed/19401883 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/02713680902859639 |
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