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A founder mutation in the Ashkenazi Jewish population affecting mRNA splicing of the CCM2 gene is associated with Cerebral Cavernous Malformations: Ashkenazi Jewish founder mutation in CCM
PURPOSE: Cerebral Cavernous Malformations (CCM) can occur sporadically or are caused by mutations in one of three identified genes. CCM often remain clinically silent until a mutation carrier suffers a stroke or seizure. Pre-symptomatic genetic testing has been valuable to follow and manage CCM muta...
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| Autores principales: | , , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
2011
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3132303/ https://ncbi.nlm.nih.gov/pubmed/21543988 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/GIM.0b013e318211ff8b |
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