First interchromosomal insertion in a patient with cerebral and spinal cavernous malformations

Autosomal dominant cerebral cavernous malformations (CCM) are leaky vascular lesions that can cause epileptic seizures and stroke-like symptoms. Germline mutations in either CCM1, CCM2 or CCM3 are found in the majority of patients with multiple CCMs or a positive family history. Recently, the first...

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Detalles Bibliográficos
Autores principales: Pilz, Robin A., Schwefel, Konrad, Weise, Anja, Liehr, Thomas, Demmer, Philipp, Spuler, Andreas, Spiegler, Stefanie, Gilberg, Eberhard, Hübner, Christian A., Felbor, Ute, Rath, Matthias
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7156631/
https://www.ncbi.nlm.nih.gov/pubmed/32286434
http://dx.doi.org/10.1038/s41598-020-63337-5

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