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A novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy
PURPOSE: To investigate the genetic basis for autosomal recessive cone-rod dystrophy in a consanguineous Israeli Christian Arab family. METHODS: Patients underwent a detailed ophthalmic examination, including funduscopy, electroretinography (ERG), visual field testing, and optical coherence tomograp...
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| Главные авторы: | , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Molecular Vision
2012
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3519373/ https://ncbi.nlm.nih.gov/pubmed/23233793 |
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