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Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain
Brain somatic mutations are an increasingly recognized cause of epilepsy, brain malformations and autism spectrum disorders and may be a hidden cause of other neurodevelopmental and neurodegenerative disorders. At present, brain mosaicism can be detected only in the rare situations of autopsy or bra...
Autores principales: | Ye, Zimeng, Chatterton, Zac, Pflueger, Jahnvi, Damiano, John A, McQuillan, Lara, Simon Harvey, A, Malone, Stephen, Do, Hongdo, Maixner, Wirginia, Schneider, Amy, Nolan, Bernadette, Wood, Martin, Lee, Wei Shern, Gillies, Greta, Pope, Kate, Wilson, Michael, Lockhart, Paul J, Dobrovic, Alexander, Scheffer, Ingrid E, Bahlo, Melanie, Leventer, Richard J, Lister, Ryan, Berkovic, Samuel F, Hildebrand, Michael S |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7954394/ https://www.ncbi.nlm.nih.gov/pubmed/33738444 http://dx.doi.org/10.1093/braincomms/fcaa235 |
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