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Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations
BACKGROUND: Cerebral cavernous malformations (CCM) are vascular lesions of the central nervous system that can be found in sporadic or autosomal dominantly inherited forms and manifest with headaches, seizures, and hemorrhagic stroke. The precise proportion of de novo mutations in the CCM1,CCM2, and...
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| Publicado en: | Mol Genet Genomic Med |
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| Main Authors: | , , , , , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
John Wiley and Sons Inc.
2016
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5241208/ https://ncbi.nlm.nih.gov/pubmed/28116327 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.256 |
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