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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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Detalhes bibliográficos
Main Authors: Mettu, Pradeep, Agrón, Elvira, Samtani, Sonia, Chew, Emily Y., Wong, Wai T.
Formato: Artigo
Idioma:Inglês
Publicado em: Association for Research in Vision and Ophthalmology, Inc. 2010
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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