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Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex.
Stahl S, Gaetzner S, Voss K, Brackertz B, Schleider E, Sürücü O, Kunze E, Netzer C, Korenke C, Finckh U, Habek M, Poljakovic Z, Elbracht M, Rudnik-Schöneborn S, Bertalanffy H, Sure U, Felbor U. Stahl S, et al. Among authors: felbor u. Hum Mutat. 2008 May;29(5):709-17. doi: 10.1002/humu.20712. Hum Mutat. 2008. PMID: 18300272
CCM1 gene deletion identified by MLPA in cerebral cavernous malformation.
Gaetzner S, Stahl S, Sürücü O, Schaafhausen A, Halliger-Keller B, Bertalanffy H, Sure U, Felbor U. Gaetzner S, et al. Among authors: felbor u. Neurosurg Rev. 2007 Apr;30(2):155-9; discussion 159-60. doi: 10.1007/s10143-006-0057-1. Epub 2006 Dec 23. Neurosurg Rev. 2007. PMID: 17187287
FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous Malformations.
Spiegler S, Kirchmaier B, Rath M, Korenke GC, Tetzlaff F, van de Vorst M, Neveling K, Acker-Palmer A, Kuss AW, Gilissen C, Fischer A, Schulte-Merker S, Felbor U. Spiegler S, et al. Among authors: felbor u. Mol Syndromol. 2016 Jul;7(3):144-52. doi: 10.1159/000446884. Epub 2016 Jun 18. Mol Syndromol. 2016. PMID: 27587990 Free PMC article.
88 results