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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.
Date of publication of this fulltext: 20 Mar 2019 12:41
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| Item type | Article | ||||
| Journal or Publication Title | Molecular Genetics & Genomic Medicine | ||||
| Publisher: | Wiley | ||||
|---|---|---|---|---|---|
| Place of Publication: | HOBOKEN | ||||
| Volume: | 5 | ||||
| Number of Issue or Book Chapter: | 1 | ||||
| Page Range: | pp. 21-27 | ||||
| Date | 2016 | ||||
| Institutions | Medicine > Lehrstuhl für Humangenetik | ||||
| Identification Number |
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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 | ||||
| Status | Published | ||||
| Refereed | Yes, this version has been refereed | ||||
| Created at the University of Regensburg | Yes | ||||
| Item ID | 38507 |
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