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A Novel Haplotype with the R345W Mutation in the EFEMP1 Gene Associated with Autosomal Dominant Drusen in a Japanese Family
PURPOSE. To describe ophthalmic and molecular genetic findings in a family of Japanese patients with Malattia leventinese (ML)/Doyne honeycomb retinal dystrophy (DHRD), also known as autosomal dominant drusen. METHODS. Four patients with ML/DHRD, including a 42-year-old female proband, were ascertai...
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| Auteurs principaux: | , , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Association for Research in Vision and Ophthalmology, Inc.
2010
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2868431/ https://ncbi.nlm.nih.gov/pubmed/19850834 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.09-4497 |
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