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Rhodopsin F45L Allele Does Not Cause Autosomal Dominant Retinitis Pigmentosa in a Large Caucasian Family
PURPOSE: To ascertain the potential pathogenicity of a retinitis pigmentosa (RP)-causing RHO F45L allele in a family affected by congenital achromatopsia (ACHM). METHODS: Case series/observational study that included two patients with ACHM and 24 extended family members. Molecular genetic analysis w...
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| Main Authors: | , , , , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
The Association for Research in Vision and Ophthalmology
2013
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3763889/ https://ncbi.nlm.nih.gov/pubmed/24049715 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/tvst.2.2.4 |
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