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Genotype-Phenotype Correlation in Ocular von Hippel-Lindau (VHL) Disease: The Effect of Missense Mutation Position on Ocular VHL Phenotype
PURPOSE. von Hippel-Lindau (VHL) disease is a dominantly inherited, multisystemic tumor syndrome caused by mutations in the VHL gene. This study was conducted to establish genotype–phenotype correlations between the positions of disease-causing missense mutations and the ocular phenotypes of VHL dis...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Association for Research in Vision and Ophthalmology, Inc.
2010
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2941163/ https://ncbi.nlm.nih.gov/pubmed/20375333 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.10-5223 |
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