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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Библиографические подробности
Опубликовано в: :Mol Genet Genomic Med
Главные авторы: Rath, Matthias, Spiegler, Stefanie, Nath, Neetika, Schwefel, Konrad, Di Donato, Nataliya, Gerber, Johannes, Korenke, G. Christoph, Hellenbroich, Yorck, Hehr, Ute, Gross, Stephanie, Sure, Ulrich, Zoll, Barbara, Gilberg, Eberhard, Kaderali, Lars, Felbor, Ute
Формат: Artigo
Язык:Inglês
Опубликовано: John Wiley and Sons Inc. 2016
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Original Articles
Online-ссылка: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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