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Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations

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 and Felbor, Ute (2016) Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations. Molecular Genetics & Genomic Medicine 5 (1), pp. 21-27.

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Other URL: http://doi.org/10.1002/mgg3.256

Dieser Artikel ist in einer Zeitschrift aus dem Directory of Open Access (DOAJ) publiziert.


BackgroundCerebral 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 CCM3 genes remains unknown. MethodsWe here present a series of six trios with de novo mutations ...


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Item type:Article
Institutions:Medicine > Lehrstuhl für Humangenetik
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Keywords:GERMLINE MUTATIONS; SOMATIC MUTATIONS; CCM1; GENES; CCM1; CCM2; CCM3; cerebral cavernous malformation; de novo mutation; deep sequencing; postzygotic mutation
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Yes
Item ID:38507
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