A deletion causing NF2 exon 9 skipping is associated with familial autosomal dominant intramedullary ependymoma

BACKGROUND: Intramedullary ependymomas are rare and benign tumors in the adult. Little is known about their physiopathology, but the implication of the NF2 gene is suspected because of their presence in a third of patients with type 2 neurofibromatosis (NF2), a disorder caused by mutation of the NF2...

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Detalles Bibliográficos
Autores principales: Zemmoura, Ilyess, Vourc'h, Patrick, Paubel, Agathe, Parfait, Béatrice, Cohen, Joëlle, Bilan, Frédéric, Kitzis, Alain, Rousselot, Cécilia, Parker, Fabrice, François, Patrick, Andres, Christian R.
Formato: Artigo
Lenguaje:Inglês
Publicado: Oxford University Press 2014
Materias:
Basic and Translational Investigations
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3895380/
https://ncbi.nlm.nih.gov/pubmed/24357459
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/neuonc/not165
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