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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

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Abstract

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
Date:2016
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1002/mgg3.256DOI
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
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Yes
Item ID:38507
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